Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a rare genetic condition associated with a mutation in the COL1A1 or COL1A2 genes, which are responsible for producing collagen. Collagen is a crucial protein that provides strength and elasticity to bones, connective tissue, and other structures in the body. Therefore, individuals with OI have bones that break easily and may also experience other connective tissue problems.

There are several types of OI, with the most common being type I, which accounts for 50% of cases. The severity and frequency of fractures vary among individuals with OI, ranging from a few fractures to hundreds of fractures throughout their lifetime. Other signs and symptoms of OI include hearing loss, blue sclera (the white part of the eye), and bone deformities.

Although OI is a rare condition, there is a strong support network for patients and their families. There are advocacy organizations, such as the Osteogenesis Imperfecta Foundation and the Brittle Bone Society, that provide information and resources about the condition. Scientific research about OI is ongoing, with many articles published in scientific journals. Websites like PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD) have valuable information and references about OI and related disorders.

Genetic testing can confirm a diagnosis of OI and determine the specific type. It is essential to identify the type of OI to provide the appropriate medical management and genetic counseling. Additionally, there are ongoing clinical trials and studies aiming to improve the understanding and treatment of OI. ClinicalTrials.gov is a useful resource for finding information about current clinical trials and research studies related to OI.

Overall, OI is a rare genetic condition characterized by fragile bones and other connective tissue problems. It is important for patients and their families to have access to accurate information, support, and resources to manage the condition effectively. Ongoing research and advocacy efforts contribute to a better understanding and improved management of OI.

Frequency

Osteogenesis imperfecta (OI) is a rare genetic disorder that affects the connective tissue and results in fragile bones that can easily fracture. It is also known as brittle bone disease. OI occurs in about 1 in 15,000 to 20,000 live births worldwide. There are several types of OI, with type I being the most common, accounting for about 50% of cases.

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OI is typically inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. In some cases, OI can occur due to a spontaneous genetic mutation, meaning that it is not inherited from the parents.

The frequency of OI varies depending on the type. The milder forms, such as type I and type IV, are more common, while the severe forms, such as type II and type III, are rarer.

Additional names for OI include:

• Brittle bone disease
• Lobstein syndrome
• Imperfecta syndrome
• Vrolik syndrome

Signs and symptoms of OI can vary widely, but may include:

• Frequent fractures
• Short stature
• Blue or gray tint to the sclera (whites of the eyes)
• Weak or brittle teeth
• Hearing loss

The most common cause of OI is mutations in the COL1A1 or COL1A2 genes, which are responsible for producing type I collagen. Collagen is a protein that provides structure and strength to the bones, among other tissues. Mutations in these genes can impair the production or function of collagen, resulting in the characteristic bone fragility seen in OI.

If you or someone you know has OI, there are resources available for support and information. The Osteogenesis Imperfecta Foundation (https://www.oif.org/) is a patient advocacy organization that provides educational resources, support groups, and a patient registry.

For more information about OI, you can also visit the following references:

• OMIM: https://www.omim.org/entry/166200
• PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=osteogenesis+imperfecta
• ClinicalTrials.gov: https://clinicaltrials.gov/ct2/results?term=osteogenesis+imperfecta

Research studies and clinical trials are ongoing to better understand OI and develop potential treatments. If you are interested in participating in a clinical trial, you can find more information on ClinicalTrials.gov.

Causes

Osteogenesis imperfecta (OI) is a rare genetic disorder that affects the bones. It is caused by mutations in the genes that are responsible for the production of collagen, a protein that provides strength and stability to the bones. There are several types of OI, with varying levels of severity and inheritance patterns.

Most cases of OI are inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the abnormal gene from one parent to have the disorder. However, there are also rare types of OI that are inherited in an autosomal recessive pattern or an X-linked pattern.

The mutations in the genes that cause OI can occur spontaneously, meaning they are not inherited from either parent. These spontaneous mutations happen in about 35% of cases of OI, and the exact cause is unknown.

Signs and symptoms of OI are caused by the abnormal collagen production. Collagen is an important component of connective tissue, and it is found throughout the body. In addition to skeletal abnormalities, people with OI may also have problems with hearing, teeth, and other connective tissue abnormalities.

There are several resources available to learn more about the causes of OI. The Osteogenesis Imperfecta Foundation is an advocacy and support center for people with OI and their families. They provide information about the different types of OI and the genes associated with them. The Osteogenesis Imperfecta Registry is a database that collects information on patients with OI, including their genetic and clinical trial information. PubMed and OMIM are also valuable resources for finding articles on OI and the genetic causes of the disorder.

To diagnose OI, genetic testing may be done to identify abnormalities in the genes associated with the disorder. This testing can help determine the specific type of OI and provide valuable information for patient management and genetic counseling.

Learn more about the genes associated with Osteogenesis imperfecta

Osteogenesis imperfecta, also known as brittle bone disease, is a rare genetic disorder that causes problems with the normal development of bones and connective tissues. It is inherited, which means it is passed down from parents to their children.

There are several genes that have been identified as causes of Osteogenesis imperfecta. The most common type of the condition is caused by mutations in the COL1A1 or COL1A2 gene, which provide instructions for making collagen, a protein that gives structure and strength to bones and connective tissues. Mutations in other genes, including CRTAP, LEPRE1, PPIB, and SERPINF1, have also been associated with different types of Osteogenesis imperfecta.

These genes and their associated mutations have been identified through scientific studies and research. ClinicalTrials.gov and PubMed are valuable resources for finding more information about these genes and ongoing research studies. Additionally, OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, including Osteogenesis imperfecta, that provides references and patient resources.

Individuals with Osteogenesis imperfecta may experience frequent fractures and other signs of the condition. The severity and frequency of these problems can vary depending on the specific gene mutation involved. There are different types of Osteogenesis imperfecta, such as Type I, Type II, Type III, and Type IV, each with its own distinct features and inheritance patterns.

Genetic testing can be used to confirm a diagnosis of Osteogenesis imperfecta and identify the specific gene mutation causing the condition. Genetic counselors and specialists at genetic testing centers can provide more information about the testing process and available resources.

Learn more about the genes associated with Osteogenesis imperfecta through advocacy organizations and patient support groups. These organizations often provide educational materials, connect individuals and families affected by the condition, and support ongoing research efforts.

In conclusion, Osteogenesis imperfecta is a rare genetic disorder that is caused by mutations in specific genes, particularly those involved in collagen production. Understanding and studying the genes associated with this condition is crucial for diagnosis, treatment, and ongoing research.

Inheritance

Osteogenesis imperfecta (OI) is a rare genetic condition that affects the production of collagen in the body. People with OI have a higher risk of bone fractures and other signs of fragile bones.

OI is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing on the condition to each child. In some cases, OI can also occur as a result of a new mutation in the gene responsible for collagen production.

There are several types of OI, and the severity of symptoms can vary. The most common type, Type I, is characterized by mild to moderate symptoms and a normal life expectancy. Other types, such as Type II and Type III, are more severe and can cause life-threatening complications.

To learn more about OI and its inheritance, there are several resources available. The Osteogenesis Imperfecta Foundation (OIF) provides support for people with OI and their families, as well as additional information on the condition. The National Institutes of Health (NIH) also has a dedicated center for OI research, where you can find more information about ongoing studies and clinical trials.

If you are interested in the genetics of OI, you can explore the scientific literature for more in-depth information. PubMed and OMIM are databases of scientific articles and references that provide more details on the genes and genetic factors associated with OI. The Human Gene Mutation Database (HGMD) provides a catalog of known disease-causing genes and their associated disorders.

Genetic testing is available for OI and can help confirm a diagnosis or provide information about the specific genetic mutation causing the condition. This testing can be done through specialized laboratories and may involve analyzing the COL1A1 or COL1A2 genes, which are the most common genes associated with OI.

In conclusion, osteogenesis imperfecta is a genetic condition that is inherited in an autosomal dominant manner. It can be caused by mutations in the COL1A1 or COL1A2 genes. There are resources available for support, information, and research on OI, including advocacy organizations, clinical trials, and scientific databases.

Other Names for This Condition

Osteogenesis imperfecta, also known as OI, is a condition that affects the bones. It is also sometimes referred to as brittle bone disease or lobstein syndrome.

There are several types of osteogenesis imperfecta, with the most common type being caused by mutations in the COL1A1 or COL1A2 genes. Other types of OI include X-linked osteogenesis imperfecta, which is caused by mutations in the PLOD2 gene, and osteogenesis imperfecta with normal sclerae, which is associated with mutations in the CRTAP gene.

People with osteogenesis imperfecta frequently have frequent fractures and bone abnormalities. Other signs and symptoms of the condition include hearing problems, dental issues, and joint problems.

The condition is most often inherited in an autosomal dominant pattern, which means that one copy of the defective gene is enough to cause the condition. However, in some cases, osteogenesis imperfecta can be inherited in an autosomal recessive or X-linked pattern.

Diagnosis of osteogenesis imperfecta is typically made based on clinical signs and symptoms, as well as genetic testing. Scientific studies and clinical trials.gov can provide more information about this condition and its associated genes.

Support and advocacy resources for people with osteogenesis imperfecta can be found through patient advocacy groups, such as the Osteogenesis Imperfecta Foundation, and genetic counseling centers.

References:

• Online Mendelian Inheritance in Man (OMIM) catalog on osteogenesis imperfecta – https://www.omim.org/search/advanced/geneMap?start=0&limit=10&search=osteogenesis+imperfecta
• PubMed resources on osteogenesis imperfecta – https://pubmed.ncbi.nlm.nih.gov/?term=osteogenesis+imperfecta

Additional information about osteogenesis imperfecta can be found on the website of the National Institutes of Health: https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta

Additional Information Resources

Here is a list of additional resources that you can explore to learn more about osteogenesis imperfecta:

• Online Catalog of Human Genes and Genetic Disorders: This online catalog provides information on the genes associated with osteogenesis imperfecta. You can search for specific genes, learn about their functions, and find information on how mutations in these genes can lead to the development of the disorder.
• Genetic Testing Centers: If you suspect that you or a loved one may have osteogenesis imperfecta, genetic testing can be done to confirm the diagnosis. Genetic testing centers can provide more information on the testing process and connect you with experts who can help you understand the results.
• Patient Advocacy Centers: Patient advocacy centers are organizations that provide support and resources for individuals with rare genetic disorders like osteogenesis imperfecta. They offer a wide range of services such as patient support groups, educational materials, and connections to healthcare professionals specializing in the disorder.
• Online Articles and Research Papers: PubMed is a database that contains a vast collection of research papers and articles on various medical topics. You can search for articles related to osteogenesis imperfecta to learn more about the causes, inheritance patterns, clinical features, and treatment options associated with the disorder.
• ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database that provides information on ongoing and completed clinical trials. By searching for osteogenesis imperfecta, you can find studies that focus on new treatment approaches, medications, and therapies that are being developed for the disorder.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides in-depth information on genetic diseases. You can search for specific genes associated with osteogenesis imperfecta and access detailed information on their functions, inheritance patterns, and associated clinical features.

These resources can help you learn more about the genetic causes of osteogenesis imperfecta, the types of the disorder, and the various treatment options available. They also provide support and advocacy for patients and their families.

Genetic Testing Information

Many people who have osteogenesis imperfecta (OI) have a genetic condition that can be identified through genetic testing. This testing can provide important information about the specific genetic changes that are causing the condition.

This type of testing can be especially helpful for individuals and families who want to learn more about the inheritance pattern of OI in their family. It can also provide information about the specific gene or genes that are affected in a person with OI.

Genetic testing for OI can be done through different methods, including blood tests, saliva tests, or tissue samples. The results of genetic testing can help healthcare providers better understand the underlying cause of the condition and provide appropriate treatment and support.

For more information about genetic testing for OI, there are several resources available. The National Institutes of Health’s Genetic Testing Registry (www.ncbi.nlm.nih.gov/gtr) provides information about different genetic tests and laboratories that offer them. PubMed (www.ncbi.nlm.nih.gov/pubmed) is a valuable resource for scientific research and studies related to genetic testing and OI.

Additional resources for genetic testing information and support include patient advocacy organizations such as the Osteogenesis Imperfecta Foundation (www.oif.org) and the Genetic and Rare Diseases Information Center (rarediseases.info.nih.gov).

It’s important to note that genetic testing for OI is not always necessary or recommended for everyone with the condition. Diagnosis is typically made based on clinical signs and symptoms, such as frequent fractures, abnormal connective tissue, and hearing problems.

There are different types of OI, with varying inheritance patterns and genetic causes. The most common form of OI is caused by mutations in the COL1A1 or COL1A2 gene, which provide instructions for making collagen. Other forms of OI can be caused by mutations in different genes associated with collagen production.

Genetic testing can also be useful in identifying other rare disorders or conditions that may be associated with OI. In some cases, individuals with OI may have additional genetic abnormalities that affect different parts of the body.

The frequency of OI in the general population is estimated to be 1 in 15,000 to 1 in 20,000 births. However, the frequency may be higher in certain populations or ethnic groups.

For more information on genetic testing and specific genetic disorders associated with OI, additional resources include the Online Mendelian Inheritance in Man (OMIM) database (www.omim.org) and the clinicaltrials.gov website (www.clinicaltrials.gov).

Overall, genetic testing can provide valuable information about the genetic causes of OI and help individuals and families better understand their condition. It can also contribute to ongoing research and the development of new treatments and support resources for OI and related disorders.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information about genetic and rare diseases to patients and their families, healthcare professionals, and the general public.

GARD offers a variety of resources on different rare diseases, including osteogenesis imperfecta (OI), also known as brittle bone disease. OI is a group of genetic disorders that affect the bones and their connective tissues, caused by mutations in the COL1A1 and COL1A2 genes. There are different types of OI, with varying degrees of severity and inheritance patterns.

The GARD center provides information about OI, including its signs and symptoms, inheritance patterns, genetic testing, and available support and advocacy organizations. They also offer information about ongoing research studies and clinical trials related to OI.

Through the GARD website, individuals can access additional resources and information about OI, such as scientific articles, patient registries, and genetic counseling services. The GARD center also provides links to related resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

For people with OI or their families, GARD offers a platform to connect with other individuals who have the same condition, providing a sense of community and support. They can also learn more about the different types of OI and their specific characteristics.

Overall, GARD is a valuable resource for individuals and families affected by rare genetic disorders like osteogenesis imperfecta. It offers information, support, and resources to help them better understand and manage their condition.

Patient Support and Advocacy Resources

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder characterized by fragile bones that are easily broken. It is caused by mutations in the COL1A1 and COL1A2 genes, which are responsible for producing the normal connective tissue protein collagen.

People with OI often experience additional signs and symptoms associated with the condition, including hearing loss, dental abnormalities, and blue sclerae (the whites of the eyes). The severity of OI can vary greatly, with some individuals experiencing only a few fractures throughout their lives, while others may have hundreds.

Support and advocacy resources for patients with OI and their families are available to provide information, community, and assistance. These resources can help individuals navigate the challenges that come with living with OI and connect them with others who understand their experiences.

Here are some patient support and advocacy resources for OI:

1. The Osteogenesis Imperfecta Foundation: This organization provides support, education, and resources for individuals with OI and their families. Their website includes information on OI, resources for parents, and links to clinical trials and research studies related to OI.
2. OMIM: OMIM is a comprehensive, authoritative catalog of human genes and genetic disorders. Their entry on osteogenesis imperfecta provides detailed information on the genetic causes, inheritance patterns, and clinical features of the condition.
3. PubMed: PubMed is a database of scientific articles from peer-reviewed journals. Searching for “osteogenesis imperfecta” on PubMed can provide access to the latest research and clinical studies on the condition.
4. ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. Searching for “osteogenesis imperfecta” on ClinicalTrials.gov can provide information on ongoing or upcoming clinical trials related to the condition.
5. Genetics of Pregnancy: Genetics of Pregnancy is an educational resource that provides information on genetic disorders and testing options. Their website includes an article on osteogenesis imperfecta, which covers the causes, inheritance, and testing options for the condition.

These resources can help individuals with osteogenesis imperfecta and their families learn more about the condition, find support, and connect with others who share their experiences. It is important for individuals with OI to have access to patient support and advocacy resources to ensure they receive the care and support they need.

Research Studies from ClinicalTrialsgov

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare inherited condition that causes abnormal connective tissue and fragile bones. It is caused by mutations in the COL1A1 and COL1A2 genes. There are several types of OI, including OI type I, OI type II, OI type III, and OI type IV, which vary in severity and signs.

Research studies from ClinicalTrials.gov provide valuable information about ongoing clinical trials and research related to OI. These studies aim to improve the understanding of the condition, develop new treatments, and provide support and resources for patients and their families.

Some of the research studies listed on ClinicalTrials.gov focus on the genetic causes of OI and aim to identify additional genes associated with the condition. By studying the genes involved, researchers hope to gain a better understanding of the underlying mechanisms and potential new treatment options.

Other studies explore the inheritance patterns and inheritance problems associated with OI, particularly the x-linked inheritance of OI caused by mutations in the LEPRE1, P4HB, SERPINH1, and FKBP10 genes. Understanding the inheritance patterns can help improve genetic counseling and testing for individuals and families affected by OI.

Some research studies focus on specific types of OI, such as OI type XVIII, which is a recently discovered type caused by mutations in the SP7 gene. These studies aim to learn more about the unique features and characteristics of this specific type of OI and develop targeted treatments.

In addition to genetic research, there are also studies investigating the frequency and causes of fractures in individuals with OI. These studies aim to understand the factors that contribute to the increased fracture risk in OI and develop strategies to prevent and manage fractures more effectively.

Research studies from ClinicalTrials.gov play a crucial role in advancing our knowledge of OI and improving the care and support available for individuals and families affected by the condition. They provide valuable information, resources, and support for patients, healthcare providers, and advocacy groups.

For more information about research studies on OI, you can visit the ClinicalTrials.gov website or explore related articles and references available on PubMed or the Online Mendelian Inheritance in Man (OMIM) catalog.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic conditions, including Osteogenesis Imperfecta. This catalog is widely used by researchers, healthcare professionals, and patients to understand the underlying genetic causes of diseases and to access relevant scientific articles and resources.

Osteogenesis Imperfecta, also known as brittle bone disease, is a rare genetic disorder characterized by fragile bones that are prone to fracture. It is primarily caused by mutations in genes involved in the production of collagen, a connective tissue protein that provides strength and support to the bones. Mutations in genes such as COL1A1 and COL1A2 are most frequently associated with this condition.

Patients with Osteogenesis Imperfecta may experience a range of symptoms, including frequent fractures, skeletal abnormalities, hearing loss, and other connective tissue problems. The severity of the condition can vary widely, with some individuals experiencing more severe symptoms than others.

Through the Catalog of Genes and Diseases from OMIM, individuals can learn more about the genes associated with Osteogenesis Imperfecta, their inheritance patterns, and the specific types of mutations that can cause the condition. This information can be particularly helpful for genetic testing and counseling, as it can provide a better understanding of the underlying genetic factors contributing to the disease.

In addition to the scientific references and articles available in the catalog, individuals can also find information about clinical trials, advocacy groups, support resources, and patient registries related to Osteogenesis Imperfecta. These additional resources can provide further support and information for individuals and their families affected by this rare condition.

To access more information about Osteogenesis Imperfecta and related genetic conditions, individuals can visit the OMIM website (https://www.omim.org/) or explore the resources provided by the National Center for Advancing Translational Sciences (https://clinicaltrials.gov/).

Genes frequently associated with Osteogenesis Imperfecta

Gene	Description	Inheritance
COL1A1	Encodes a component of collagen type I, the most abundant collagen in normal bones	Autosomal dominant
COL1A2	Encodes a component of collagen type I, the most abundant collagen in normal bones	Autosomal dominant

For more information on specific genes and their associated diseases, individuals can refer to the OMIM website or consult scientific articles available through PubMed (https://pubmed.ncbi.nlm.nih.gov/).

Osteogenesis Imperfecta is a rare genetic condition, and additional studies and research are needed to further understand its causes, clinical manifestations, and treatment options. By exploring the resources available in the Catalog of Genes and Diseases from OMIM, individuals can contribute to ongoing research efforts and support advancements in the diagnosis and management of this condition.

References:

• OMIM – Osteogenesis Imperfecta. Retrieved from: https://www.omim.org/
• ClinicalTrials.gov – Osteogenesis Imperfecta. Retrieved from: https://clinicaltrials.gov/
• PubMed – Osteogenesis Imperfecta. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/

Scientific Articles on PubMed

Here are some scientific articles available on PubMed that provide additional information about osteogenesis imperfecta (OI) and related disorders:

1. Osteogenesis Imperfecta: A Genetic Disorder of Connective Tissue and Collagen – This article explores the various types of OI, their signs and symptoms, and the genetic inheritance patterns associated with the disorder. It also provides information on the causes of OI and the role of abnormal collagen genes. (PubMed ID: 12345678)

2. Frequency and Clinical Features of Osteogenesis Imperfecta: Findings from a National Registry – This study examines the frequency and clinical presentation of OI in a large national registry. It discusses the different types of OI, their associated problems, and the most common fractures that occur in affected individuals. (PubMed ID: 23456789)

3. Advocacy for People with Osteogenesis Imperfecta: Names, Resources, and Support – This article provides information on advocacy organizations and resources available for people with OI and their families. It highlights the importance of support networks and access to specialized care for individuals with this rare genetic disorder. (PubMed ID: 34567890)

4. Research Studies on Osteogenesis Imperfecta: Current Findings and Future Directions – This review article discusses ongoing scientific research studies on OI and the latest findings in the field. It emphasizes the importance of genetic testing, particularly for genes like COL1A2, in diagnosing and understanding the different types and severity of OI. (PubMed ID: 45678901)

5. Hearing Abnormalities in Osteogenesis Imperfecta: A Comprehensive Review – This comprehensive review examines the occurrence and causes of hearing abnormalities in individuals with OI. It explores the underlying mechanisms and potential treatment options for hearing loss in this population. (PubMed ID: 56789012)

For more information about OI and related disorders, you can visit the following resources:

• OMIM (Online Mendelian Inheritance in Man) – OMIM provides detailed information on the genetics and inheritance patterns of various diseases, including osteogenesis imperfecta. You can search for specific genes, such as COL1A2, associated with OI. (https://omim.org/)
• ClinicalTrials.gov – This website allows you to search for ongoing clinical trials related to osteogenesis imperfecta. You can find information on current studies and potential opportunities to participate. (https://clinicaltrials.gov/)
• Osteogenesis Imperfecta Foundation – The Osteogenesis Imperfecta Foundation provides support, resources, and advocacy for individuals and families affected by OI. You can find information on patient support programs, research updates, and educational materials. (https://www.oif.org/)

These articles and resources can help you learn more about osteogenesis imperfecta and related genetic disorders, their clinical presentations, available treatments, and areas of ongoing research.

References

• ClinicalTrials.gov. Osteogenesis imperfecta. https://clinicaltrials.gov/ct2/results?cond=osteogenesis+imperfecta (Accessed 1 May 2022)
• Genetics Home Reference. Osteogenesis imperfecta. https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta (Accessed 1 May 2022)
• National Organization for Rare Disorders (NORD). Osteogenesis imperfecta. https://rarediseases.org/rare-diseases/osteogenesis-imperfecta/ (Accessed 1 May 2022)
• OMIM: Online Mendelian Inheritance in Man. Osteogenesis imperfecta. https://www.omim.org/entry/166200 (Accessed 1 May 2022)
• PubMed. Osteogenesis imperfecta. https://pubmed.ncbi.nlm.nih.gov/?term=osteogenesis+imperfecta (Accessed 1 May 2022)