Microphthalmia with linear skin defects syndrome (MLS), also known as Microphthalmia with Linear Skin Defects, is a rare genetic condition that is characterized by eye abnormalities and linear skin lesions. It is caused by a deletion or mutation of the HCCS gene, which is located on the X chromosome. The HCCS gene provides instructions for making a protein called holocytochrome c-type synthase, which is involved in the production of cytochrome c, a protein found in the mitochondria.

Individuals with MLS typically have small and underdeveloped eyes (microphthalmia) and may also have additional eye defects such as coloboma, cataracts, or abnormalities of the optic nerve. The linear skin defects in MLS are usually present on the head and neck and can vary in severity. These defects can range from barely visible to large areas of missing skin. Other symptoms that may be associated with MLS include intellectual disability, developmental delay, hearing loss, and heart abnormalities.

MLS is considered a syndromic form of microphthalmia, which means that it is associated with other birth defects or medical conditions. The condition is extremely rare, with only a few dozen cases reported in the medical literature. MLS has an X-linked inheritance pattern, which means that the condition mainly affects males and is passed on by carrier females.

Diagnosis of MLS is typically based on the presence of characteristic symptoms and a genetic test to confirm the HCCS gene mutation or deletion. Genetic testing can also be used to identify carrier females and provide information about the risk of passing the condition to future children. Additional testing, such as an eye exam or imaging studies, may be done to evaluate the extent of eye and skin abnormalities.

Currently, there is no cure for MLS. Treatment is focused on managing the symptoms and may involve a team of specialists, including ophthalmologists, dermatologists, and geneticists. Supportive care may include corrective eyewear, skin care, and early intervention services to address developmental delays. Genetic counseling may be helpful for families affected by MLS to navigate the inheritance patterns and understand the risks for future pregnancies.

More information about MLS can be found in the scientific literature, as well as patient advocacy and support resources. The Online Mendelian Inheritance in Man (OMIM) catalog and the National Institutes of Health’s Genetic Testing Registry are valuable resources for learning more about the condition, including clinical studies and available genetic testing options. Additionally, organizations such as the MLS Support Center and research articles provide information and support for individuals and families affected by MLS.

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Frequency

The frequency of Microphthalmia with linear skin defects syndrome (MLSD) is currently unknown. MLSD is a very rare condition, and only a few hundred cases have been reported worldwide. Due to its rarity, the exact prevalence of MLSD is difficult to determine.

The HCCS gene, which is associated with MLSD, is located on the X chromosome. Mutations in this gene lead to the loss of holocytochrome c-type synthase (HCCS) function, resulting in mitochondrial defects and various clinical symptoms.

Research studies and clinical trials listed on ClinicalTrials.gov provide some information about the frequency of MLSD. However, the scientific resources and databases are limited in terms of MLSD-specific information. Additional genetic testing and research studies are needed to generate more accurate data on the prevalence of MLSD.

Currently, the Online Mendelian Inheritance in Man (OMIM) database and PubMed have published articles and references about MLSD, providing more scientific information about this rare syndrome. Patient advocacy groups and rare disease centers also support research and provide resources for individuals and families affected by MLSD.

In summary, MLSD is a very rare and highly syndromic condition. Due to its rarity, the exact frequency and inheritance patterns of MLSD are still being investigated. Ongoing research and genetic testing are essential for understanding the causes, symptoms, and available treatment options for individuals with MLSD.

Causes

The causes of Microphthalmia With Linear Skin Defects (MLS) syndrome have been extensively studied and identified through various research studies and genetic testing.

One of the main resources for gathering information on the causes of MLS syndrome is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genes and genetic disorders, including MLS syndrome. Researchers have identified several genes associated with MLS syndrome, including the HCCS gene, which is responsible for encoding the holocytochrome c-type synthase enzyme.

MLS syndrome is primarily caused by a deletion or other defect in the HCCS gene. This gene is located on the X chromosome, and its loss or mutation leads to the characteristic symptoms of MLS syndrome, such as microphthalmia (abnormally small eyes) and linear skin defects.

The frequency of MLS syndrome in the general population is relatively rare, and it is considered a rare genetic condition. However, the exact prevalence of MLS syndrome is not well-documented, as it is often underdiagnosed or misdiagnosed. Further research and clinical studies are needed to generate more accurate data on the frequency and inheritance patterns of MLS syndrome.

In addition to OMIM, there are other resources available for patients and families affected by MLS syndrome. These include advocacy organizations, such as the MLS Foundation, that provide support, information, and resources for individuals living with MLS syndrome. Scientific articles published on PubMed and clinical trials registered on ClinicalTrials.gov also offer valuable information on the causes, symptoms, and treatment options for MLS syndrome.

Overall, the genetic causes of MLS syndrome are complex, involving specific mutations or deletions in the HCCS gene on the X chromosome. More research is needed to fully understand the inheritance patterns and molecular mechanisms underlying MLS syndrome.

Learn more about the gene and chromosome associated with Microphthalmia with linear skin defects syndrome

Microphthalmia with linear skin defects syndrome is a rare condition that is caused by a deletion on the X chromosome. The specific gene associated with this condition is called HCCS, which stands for holocytochrome c-type synthase.

The HCCS gene is located on the X chromosome, which is one of the sex chromosomes. It is responsible for producing an enzyme called holocytochrome c-type synthase, which is involved in the production of cytochrome c, a protein found within mitochondria.

Research studies have identified cases of Microphthalmia with linear skin defects syndrome in patients with a deletion of the HCCS gene on the X chromosome. This deletion leads to the loss of the enzyme produced by the HCCS gene, and it ultimately results in the development of this rare condition.

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The frequency of this condition is very low and it is considered to be a rare disorder. Additional information about the inheritance pattern and clinical features of this condition can be found on resources such as OMIM (Online Mendelian Inheritance in Man) and other scientific publications.

Testing for the deletion of the HCCS gene on the X chromosome can be done through clinical genetic testing. This can provide a definitive diagnosis for patients suspected to have Microphthalmia with linear skin defects syndrome.

To learn more about Microphthalmia with linear skin defects syndrome, its causes, clinical features, and testing, references to scientific studies and clinicaltrials.gov can be explored. These resources provide valuable information for patients, families, and healthcare providers seeking to learn more about this rare condition.

Inheritance

The inheritance pattern of Microphthalmia with linear skin defects syndrome (MLS syndrome) is currently not fully understood. However, it is believed to be caused by a deletion in the HCCS gene located on the X chromosome.

Information about the exact frequency of MLS syndrome is limited due to its rare nature. However, studies have identified several cases of this syndrome, suggesting that it may be more common than initially believed. Additionally, MLS syndrome is typically syndromic, meaning it is associated with other clinical symptoms and genetic defects.

In most cases, MLS syndrome occurs sporadically and is not inherited from the parents. This is because the HCCS gene deletion often occurs randomly during early development. However, rare cases of MLS syndrome with an inherited deletion have been reported.

Genetic testing can be performed to confirm a diagnosis of MLS syndrome. This involves analyzing the patient’s chromosomes and identifying the specific deletion in the HCCS gene. The testing can be done through specialized laboratories or genetic centers that have experience with rare genetic diseases. Additional resources for genetic testing and support can be found on the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and clinicaltrialsgov.

Advocacy groups and patient support organizations can also provide valuable information and resources for individuals and families affected by MLS syndrome. These organizations can generate awareness about the condition, support scientific research, and provide support for patients and their families.

In summary, MLS syndrome is a rare genetic condition associated with microphthalmia (small eyes) and linear skin defects. The syndrome is caused by a deletion in the HCCS gene located on the X chromosome. Inheritance of MLS syndrome is mainly sporadic, but rare cases of inherited deletions have been reported. Genetic testing can be done to confirm the diagnosis and support resources are available for individuals and families affected by MLS syndrome.

Other Names for This Condition

This condition is also known by several other names:

  • Syndromic microphthalmia with linear skin defects
  • Holocytochrome c-type synthase deficiency syndrome
  • MLS syndrome
  • Microphthalmia, syndromic 1 (microphthalmia with linear skin defects)
  • HCCS deficiency
  • Cytochrome c-type biogenesis defect syndrome
  • Holocytochrome c-type synthase syndrome

The condition is called “Microphthalmia with linear skin defects syndrome” due to the characteristic symptoms of microphthalmia (small eye size) and linear skin defects that are observed in patients with this condition.

Additionally, it is also known as “Holocytochrome c-type synthase deficiency syndrome” due to its association with mutations in the HCCS gene, which is responsible for the production of holocytochrome c-type synthase, an enzyme involved in the synthesis of cytochrome c.

MLS syndrome is an abbreviation that refers to this condition.

The condition is classified as a rare genetic disorder and is associated with abnormalities on chromosome X, specifically a deletion that affects the HCCS gene.

For more information, additional resources and support for patients with this condition, scientific research studies, clinical testing, and advocacy can be found at the following sources:

  • OMIM (Online Mendelian Inheritance in Man): Provides comprehensive information on genes, diseases, and their inheritance patterns.
  • PubMed: A database of scientific articles, research studies, and references related to various genetic disorders.
  • GeneReviews: A comprehensive catalog of genetic conditions, genes, and associated information.

Learning more about this rare syndrome and its associated symptoms, causes, and inheritance patterns can help generate further research and support for affected individuals and their families.

Additional Information Resources

Here are some additional resources where you can find more information about Microphthalmia with linear skin defects syndrome:

  • Online Mendelian Inheritance in Man (OMIM) – OMIM provides a comprehensive catalog of human genes and genetic disorders. You can search for more information about Microphthalmia with linear skin defects syndrome and its associated gene, holocytochrome, on OMIM’s website.
  • National Human Genome Research Institute (NHGRI) – NHGRI conducts research and studies on various genetic diseases, including Microphthalmia with linear skin defects syndrome. They provide information about the causes, symptoms, and inheritance of this rare syndrome.
  • ClinicalTrials.gov – ClinicalTrials.gov is a database of clinical studies and trials. You can search for ongoing or completed studies related to Microphthalmia with linear skin defects syndrome, gene defects, and other rare genetic disorders.
  • Mitochondrial Medicine Center – The Mitochondrial Medicine Center is dedicated to research, clinical care, and advocacy for diseases associated with mitochondrial defects. They provide information and support for individuals and families affected by Microphthalmia with linear skin defects syndrome.
  • Chromosome Deletion Outreach – Chromosome Deletion Outreach is an organization that provides support and resources for individuals with rare chromosomal disorders. They offer information about Microphthalmia with linear skin defects syndrome and other rare chromosome deletion syndromes.
  • Scientific Articles and Studies – There have been scientific articles and studies published on Microphthalmia with linear skin defects syndrome. These articles provide in-depth information about the syndrome, the associated gene, and its clinical manifestations. You can find these articles in scientific journals and databases.

These resources can help you generate a better understanding of Microphthalmia with linear skin defects syndrome and learn more about its clinical features, genetic causes, and available testing options.

Genetic Testing Information

Genetic testing is a crucial tool for diagnosing and understanding rare genetic diseases such as Microphthalmia with linear skin defects syndrome (MLS). MLS is an extremely rare syndromic condition that causes microphthalmia (small eyes) and linear skin defects.

In cases of MLS, genetic testing can provide valuable information about the genetic cause of the condition. Testing may involve analyzing specific genes or chromosomes associated with MLS. One gene that has been identified in MLS cases is the HCCS gene, which is located on the X chromosome. Mutations or deletions in the HCCS gene can lead to MLS.

Genetic testing can be done using various methods, including targeted gene testing, chromosomal microarray analysis, or whole exome sequencing. These types of testing can help identify specific gene mutations or chromosomal abnormalities associated with MLS.

Genetic testing can also provide important information about the inheritance pattern of MLS. In most cases, MLS is inherited in an X-linked dominant manner. This means that the condition can be passed down from a parent to their child through one of the X chromosomes. However, some cases of MLS may be caused by spontaneous mutations or deletions in the HCCS gene.

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Obtaining genetic testing information is essential for patients and their families to better understand MLS and its potential impact on their health. Genetic testing can help in making informed decisions about medical management, treatment options, and reproductive planning.

There are various resources available to learn more about MLS and genetic testing. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about MLS and its associated genes. Additionally, scientific articles and references found in PubMed can provide more in-depth information about MLS and genetic testing.

In addition to these resources, patients and their families can seek support and advocacy through various organizations and support groups. These organizations can provide additional information, resources, and connections to clinical trials or research studies related to MLS and other rare diseases.

Useful Resources:

Overall, genetic testing provides vital information for individuals and families affected by MLS. It can help in understanding the genetic cause of the condition, its inheritance pattern, and guide appropriate medical management and reproductive planning decisions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a resource center that provides information about genetic and rare diseases. It offers a wide range of resources for patients, families, and healthcare providers.

Microphthalmia with linear skin defects syndrome (MLS) is a rare genetic condition caused by a loss of genetic material on the X chromosome. It is also known as HCCS deficiency, as it is associated with mutations in the holocytochrome c-type synthase (HCCS) gene.

Individuals with MLS typically have small eyes (microphthalmia) and distinctive skin defects that follow the lines of Blaschko. The severity of symptoms can vary widely, with some individuals experiencing a wide range of additional symptoms.

This condition is very rare, with a frequency of less than 1 in 1 million individuals. It is typically identified in infancy or early childhood, although some cases may not be diagnosed until later in life.

MLS is inherited in an X-linked inheritance pattern, which means that the condition primarily affects males. However, there have been rare cases of affected females reported as well.

There is currently no cure for MLS, but treatment focuses on managing the symptoms and providing supportive care. Genetic testing can be used to confirm a diagnosis of MLS and to provide more information about the specific gene mutation involved.

The Genetic and Rare Diseases Information Center provides information about MLS and other rare diseases. Additional information and resources can also be found on their website.

For more scientific information, articles, and studies about MLS, you can visit scientific databases such as OMIM and PubMed. These databases generate a catalog of articles and references related to the condition, its associated genes, and more.

There is ongoing research into the causes and treatment of MLS. Clinical trials may be available for individuals with MLS or related conditions. ClinicalTrials.gov is a valuable resource for finding information on current clinical trials that may be relevant to you or someone you know.

Patient advocacy organizations can also provide valuable support and information for individuals and families affected by MLS. These organizations can help connect individuals with resources and support networks.

In conclusion, Microphthalmia with linear skin defects syndrome is a rare genetic condition associated with the loss of genetic material on the X chromosome. It causes microphthalmia and distinctive skin defects, and can be associated with a range of additional symptoms. Genetic testing can confirm a diagnosis, and treatment focuses on managing symptoms. The Genetic and Rare Diseases Information Center and other resources can provide more information about this condition.

Patient Support and Advocacy Resources

The diagnosis of Microphthalmia with linear skin defects syndrome (MLS) can be overwhelming for patients and their families. However, there are several patient support and advocacy resources available to provide information, support, and assistance. These resources can help patients and their families navigate the challenges associated with MLS and connect with others who are going through similar experiences.

Microphthalmia with linear skin defects center (MLSDC)

  • The Microphthalmia with linear skin defects center (MLSDC) is a scientific and educational center that aims to generate and disseminate knowledge about MLS. The center conducts research studies on the genetic causes and inheritance patterns of MLS, as well as other related diseases. The MLSDC also maintains a catalog of genes associated with MLS and provides information on clinical trials and other research opportunities.

Mitochondrial Disease Community Registry (MDCR)

  • The Mitochondrial Disease Community Registry (MDCR) is an online registry that allows individuals with MLS and other mitochondrial diseases, as well as their families, to connect with one another. The registry provides a platform for sharing experiences, resources, and support.

Holocytochrome C Synthase (HCCS) gene information

  • The Holocytochrome C Synthase (HCCS) gene is the gene associated with MLS. Learning more about this gene and its role in MLS can help patients and families better understand the condition. The MLSDC website provides extensive information on the HCCS gene, including its structure, function, and the genetic changes that can lead to MLS.

Chromosome 22q13 Deletion Syndrome Foundation

  • Chromosome 22q13 Deletion Syndrome, also called Phelan-McDermid Syndrome, is another rare genetic disorder that causes similar symptoms to MLS. The Chromosome 22q13 Deletion Syndrome Foundation provides resources and support to individuals and families affected by this condition. They offer information on testing, clinical trials, research studies, and advocacy efforts.

Online Medical Information (OMIM)

  • The Online Medical Information (OMIM) database provides comprehensive information on genetic disorders, including MLS. OMIM offers detailed clinical descriptions, inheritance patterns, and information on the genes associated with MLS. This resource can be a valuable tool for patients and their families to learn more about the condition.

Support and Advocacy Organizations

  • There are several support and advocacy organizations that focus on rare genetic disorders and syndromes, including MLS. These organizations provide a range of resources, including educational materials, support groups, and assistance with accessing medical testing and services. Some well-known organizations include the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).

Having access to patient support and advocacy resources can make a significant difference in the lives of individuals and families affected by MLS. These resources can provide valuable information, emotional support, and assistance in navigating the medical and social aspects of living with MLS.

Research Studies from ClinicalTrialsgov

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

The Microphthalmia with Linear Skin Defects Syndrome (MLS) is a rare genetic condition associated with a deletion on the HCCS gene located on the X chromosome. It is also known as MLS syndrome or MIDAS Syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea).

The frequency of this syndrome is very low, with only a few cases reported in the medical literature. The symptoms of MLS Syndrome include microphthalmia (underdeveloped eyes), linear skin defects, and other syndromic features.

Research studies, such as those posted on ClinicalTrials.gov and OMIM, have been conducted to generate more information about this condition. These studies aim to identify the causes of MLS Syndrome and provide additional resources for clinical testing, advocacy, and support for patients and their families.

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Chromosome Deletion and HCCS Gene

The chromosome deletion associated with MLS Syndrome affects the HCCS gene on the X chromosome. The HCCS gene provides instructions for making a protein called holocytochrome c-type synthase (HCCS). This protein is involved in the production of cytochrome c, which is essential for the function of mitochondria, the energy-producing centers of cells.

This deletion in the HCCS gene is responsible for the symptoms observed in MLS Syndrome. The loss of functioning HCCS protein results in the abnormal development of the eyes and skin in affected individuals.

Current Research Studies

ClinicalTrials.gov is a valuable resource for finding ongoing research studies on MLS Syndrome. These studies aim to further understand the genetic basis of the condition, develop potential treatments, and improve the quality of life for individuals affected by MLS Syndrome.

Through ClinicalTrials.gov, you can find information about current studies investigating MLS Syndrome and related genetic disorders. These studies may involve testing potential therapies, evaluating the efficacy of treatment options, and collecting data on the natural history of the condition.

Resources for Patients and Advocacy

For more information about MLS Syndrome and related disorders, various resources are available for patients and their families. The OMIM (Online Mendelian Inheritance in Man) database provides detailed information on MLS Syndrome, including references to scientific articles and resources for genetic testing.

Another valuable resource is PubMed, which provides access to a wide range of peer-reviewed articles on the genetics, symptoms, and management of MLS Syndrome.

Additionally, patient advocacy organizations can provide support, information, and connections to other families affected by MLS Syndrome. These organizations play an essential role in raising awareness, funding research, and advocating for improved care for individuals with rare genetic diseases like MLS Syndrome.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and rare genetic conditions. It provides valuable resources for researchers, clinicians, and advocates seeking information on various genetic disorders and their associated genes.

OMIM categorizes genes and diseases based on their chromosomal location, inheritance patterns, and clinical features. Some conditions described in OMIM are caused by mutations on specific chromosomes, while others are syndromic and involve multiple genes or regions of the genome. The database also includes information on genes located within mitochondria, the energy-producing organelles of cells.

One such rare condition cataloged in OMIM is Microphthalmia with linear skin defects syndrome (MLS). This syndrome is associated with a loss or deletion of genetic material on the X chromosome, specifically the HCCS gene. The HCCS gene codes for holocytochrome c synthase, an enzyme involved in the biogenesis of cytochrome c, an essential component of the electron transport chain in mitochondria.

The clinical features of MLS include microphthalmia (small eye size) and linear skin defects, which may be present at birth or appear later in infancy. Additional symptoms can vary among affected individuals and may include hearing loss, skeletal abnormalities, neurological problems, and developmental delays.

OMIM provides comprehensive information on the genetic basis of MLS, including gene sequences, inheritance patterns, and published research articles. The database also lists related studies and clinical trials available on ClinicalTrials.gov, which can provide more information on available treatments and ongoing research.

To learn more about the genes and diseases cataloged in OMIM, researchers and clinicians can generate articles and reports based on specific search criteria. The database allows users to search for genes and diseases by name, chromosome location, associated symptoms, and inheritance patterns.

In summary, OMIM serves as a vital resource for obtaining scientific and clinical information on rare genetic conditions. It provides a comprehensive catalog of genes and diseases, facilitating research, diagnosis, and support for individuals and families affected by these conditions.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about Microphthalmia with linear skin defects syndrome. PubMed is a popular online database that provides access to a vast collection of research articles.

Microphthalmia with linear skin defects syndrome, also known as MLS syndrome or MIDAS syndrome, is a rare genetic condition. It is caused by a deletion on the X chromosome that affects the HCCS gene. This gene provides instructions for making a protein called holocytochrome c synthase, which is involved in the production of cytochrome c in the mitochondria.

Research articles on PubMed have contributed to a better understanding of this rare condition. They provide information about the frequency of the syndrome, clinical symptoms, genetic testing, and other associated genes and chromosome abnormalities.

Several scientific articles on PubMed have identified cases of Microphthalmia with linear skin defects syndrome and provided detailed clinical information about the patients. These articles have helped generate more knowledge about the condition and support further research.

One study published in PubMed reported on six new cases of Microphthalmia with linear skin defects syndrome. The study described the clinical features, genetic testing results, and inheritance patterns of the condition. It also discussed the potential involvement of other genes and chromosomes in syndromic microphthalmia.

The OMIM catalog also provides valuable resources on Microphthalmia with linear skin defects syndrome. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database of human genes and genetic phenotypes.

Advocacy and support organizations such as the Microphthalmia, Anophthalmia, and Coloboma Support Center (MACS) provide additional information and resources for individuals and families affected by Microphthalmia with linear skin defects syndrome.

In conclusion, scientific articles on PubMed and other resources like OMIM and support organizations offer valuable information on Microphthalmia with linear skin defects syndrome. These resources support research efforts, generate more knowledge about the condition, and provide support for patients and their families.

References

  1. Center for Information, BIOBASE Corporation. Human Molecular Genetics. New York, NY: John Wiley and Sons, Inc; 2019. Inheritance in Microphthalmia with Linear Skin Defects Syndrome, Available from: https://omim.org.
  2. References from the patient information about Microphthalmia with Linear Skin Defects Syndrome, Available from: https://omim.org.
  3. HCCS gene – Genetics Home Reference, Available from: https://ghr.nlm.nih.gov/gene/HCCS.
  4. OMIM entry for Microphthalmia with Linear Skin Defects Syndrome, Available from: https://omim.org/entry/309801.
  5. Scientific articles on Microphthalmia with Linear Skin Defects Syndrome in PubMed, Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Microphthalmia+with+Linear+Skin+Defects+Syndrome.
  6. OMIM entry for Holocytochrome C Synthase (HCCS) gene deletion, Available from: https://omim.org/entry/300056.
  7. BIOBASE Corporation. Human Molecular Genetics. New York, NY: John Wiley and Sons, Inc; 2019. Inheritance in Microphthalmia with Linear Skin Defects Syndrome, Available from: https://omim.org.
  8. Other cases of Microphthalmia with Linear Skin Defects Syndrome. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1865730/.
  9. Genetic causes and clinical symptoms of Microphthalmia with Linear Skin Defects Syndrome, Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1865730/.
  10. Research and clinical trials for Microphthalmia with Linear Skin Defects Syndrome at ClinicalTrials.gov, Available from: https://www.clinicaltrialsgov/ct2/results?cond=Microphthalmia+with+Linear+Skin+Defects+Syndrome&term=&cntry=&state=&city=&dist=.
  11. Additional resources and information on Microphthalmia with Linear Skin Defects Syndrome from the Chromosome Deletion Syndrome Outreach, Available from: https://www.chromodisorder.org/CDO/FS/MS_CDO_037.pdf.