Epidermolysis bullosa with pyloric atresia, also known as EB-PA, is a rare genetic condition that affects the layers of the skin and the underlying tissue. This condition is caused by mutations in the genes ITGB4 and ITGA6, which code for the proteins α6β4 and α6 respectively. These proteins are critical for the normal attachment of the epidermis (the outermost layer of the skin) to the underlying layers, and their dysfunction can lead to blistering and erosions of the skin.

In addition to the skin symptoms, patients with EB-PA also experience pyloric atresia, a condition in which the passage between the stomach and the small intestine is obstructed. This can cause feeding difficulties and may require surgical intervention to correct. The frequency of this condition is extremely low, with only a few reported cases in the scientific literature.

Epidermolysis bullosa with pyloric atresia is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition. Genetic testing can be carried out to confirm the presence of these mutations, and additional information for patients and families can be obtained from resources such as the Genetic and Rare Diseases Information Center and advocacy groups like DEBRA International.

Research is ongoing to learn more about the causes and underlying genetics of EB-PA. Some studies have suggested that mutations in other genes may also be associated with this condition, and further research is needed to fully understand the mechanisms involved. Clinical trials and research studies can provide opportunities for patients and their families to participate in advancing our understanding and treatment of EB-PA. More information about ongoing studies can be found on websites such as ClinicalTrials.gov and OMIM.

In conclusion, Epidermolysis bullosa with pyloric atresia is a rare genetic condition that affects the skin and the digestive system. Mutations in the genes ITGB4 and ITGA6 cause dysfunction of the proteins α6β4 and α6, which are necessary for the normal attachment of the epidermis to the underlying layers. This condition is associated with blistering of the skin and pyloric atresia. Research and genetic testing are important tools for understanding and managing this condition, and resources are available to support patients and their families.

Frequency

Epidermolysis bullosa with pyloric atresia (EB-PA) is an extremely rare genetic condition. According to OMIM (Online Mendelian Inheritance in Man), there are only two known genes associated with this condition. The two genes are ITGB4 and ITGA6. Mutations in these genes can lead to the development of EB-PA.

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It is estimated that EB-PA affects approximately 1 in 200,000 to 1 in 400,000 live births. Due to its rarity, this condition is often underdiagnosed and misdiagnosed. If not properly diagnosed and managed, it can lead to significant morbidity and mortality in affected individuals.

Epidermolysis bullosa with pyloric atresia is characterized by the attachment of the epidermis, the outermost layer of the skin, to the underlying tissue. This attachment makes the skin very fragile and prone to blistering and tearing, even with minor trauma or friction. The pyloric atresia, the obstruction of the opening between the stomach and small intestine, causes feeding difficulties and can lead to malnutrition.

EB-PA has an autosomal recessive inheritance pattern, which means an affected individual inherits two copies of the mutated gene, one from each parent. When both parents are carriers of a mutated ITGB4 or ITGA6 gene, there is a 25% chance with each pregnancy of having a child with EB-PA.

Additional information about the frequency and prevalence of EB-PA can be found in the scientific literature, such as articles in PubMed and the Journal of Investigative Dermatology. Genetic testing and clinical examinations can be used to confirm a diagnosis of EB-PA and determine the specific mutations in the ITGB4 or ITGA6 genes.

Research and clinical trials are ongoing to learn more about the underlying causes and potential treatments for EB-PA. Resources and support for patients and families affected by this condition can be found through advocacy groups, such as the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) and the Epidermolysis Bullosa Medical Research Foundation (EBMRF).

References:

  1. Pulkkinen, L., Uitto, J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 18, 29–42 (1999).
  2. Epidermolysis bullosa with pyloric atresia overview. In: GeneReviews® [Internet]. Adam, M.P., Ardinger, H.H., Pagon, R.A., et al., eds. Seattle: University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1363/.
  3. Epidermolysis Bullosa With Pyloric Atresia. In: OMIM® [Internet]. Johns Hopkins University; c2021. Available from: https://www.omim.org/entry/226730.
  4. ClinicalTrials.gov. Epidermolysis Bullosa. Available from: https://www.clinicaltrials.gov/ct2/results?term=epidermolysis+bullosa&cond=Epidermolysis+Bullosa.

Causes

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare genetic disorder that is primarily caused by mutations in the genes ITGB4 and ITGA6. These genes provide instructions for making proteins that are important for the formation and stability of the epidermis, the outermost layer of the skin. The epidermis is responsible for protecting the body from trauma and other external factors.

In EB-PA, the mutations in the ITGB4 or ITGA6 genes lead to a functional deficiency of the α6β4 integrin, a protein that plays a crucial role in attaching the epidermis to the underlying layers of tissue, called the dermis. This diminished attachment causes the skin to be fragile and prone to blistering, leading to the formation of fluid-filled blisters and erosions with minimal trauma or friction.

The pyloric atresia component of EB-PA is caused by an obstruction of the opening between the stomach and the first part of the small intestine, called the pylorus. This obstruction is thought to be related to the dysfunction of the α6β4 integrin in the pyloric muscle.

EB-PA is an autosomal recessive condition, which means that both copies of the ITGB4 or ITGA6 genes must be mutated in order for the disease to occur. In most cases, individuals with EB-PA inherit one mutated copy of the gene from each parent. However, in some cases, the condition may be caused by spontaneous mutations in the affected genes. Genetic testing can be done to confirm the diagnosis and provide more information about the specific genetic mutations involved.

See also  WASHC5 gene

Research studies have identified additional genes that may be associated with EB-PA, including PLEC and DST. These genes also encode proteins that are involved in the attachment of the epidermis to the dermis. Studies on these genes are ongoing, and more information is needed to fully understand their role in the development of EB-PA.

Several resources are available to learn more about EB-PA, including the OMIM catalog of human genes and genetic disorders, PubMed articles, and advocacy organizations such as the Epidermolysis Bullosa Research Partnership. ClinicalTrials.gov may also provide information on current research studies and clinical trials related to EB-PA.

Learn more about the genes associated with Epidermolysis bullosa with pyloric atresia

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare condition characterized by the presence of skin blisters and obstruction of the opening between the stomach and small intestine. The underlying cause of EB-PA is a genetic mutation that affects the function of certain genes.

Several genes have been identified to be associated with EB-PA. One of the genes, known as ITGA6, codes for a protein called alpha-6-beta-4 integrin, which plays a crucial role in the attachment of the epidermis (the outermost layer of the skin) to the underlying tissue. Another gene, called ITGB4, codes for the beta-4 subunit of the integrin protein. Mutations in these genes can disrupt the stability of the junctional complexes between the layers of the epidermis, leading to the formation of blisters and skin trauma.

Genetic testing can be used to identify mutations in these genes to confirm a diagnosis of EB-PA. It can also be used for carrier testing in families with a history of the condition and for prenatal testing in pregnancies at risk for inheriting the disease.

More information about the genes associated with EB-PA can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov. These resources provide further details on the genes, their functions, and the frequency of mutations associated with the condition.

In addition to genetic research, clinical trials listed on ClinicalTrials.gov are often underway to explore potential treatments or interventions for EB-PA. These trials may offer opportunities for affected individuals to participate in the advancement of medical knowledge and potential treatment options.

For more support and advocacy for individuals with EB-PA and other related diseases, organizations such as the Epidermolysis Bullosa Medical Research Foundation provide resources and information.

References:

  1. Pulkkinen, L., & Uitto, J. (1999). Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biology, 18(1), 29-42.
  2. Pulkkinen, L., koch, M., kirti, v., rohi, t., szczepanik, s., kolehmainen, m., … & uitto, j. (1998). Mutation analysis of the ITGB4 gene in a large cohort of families with…
  3. “Epidermolysis bullosa with pyloric atresia.” Genetic And Rare Diseases Information Center, 2021, https://rarediseases.info.nih.gov/diseases/1583/epidermolysis-bullosa-with-pyloric-atresia.

Inheritance

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare genetic condition with autosomal recessive inheritance, which means that both parents must be carriers of the gene mutation in order to have an affected child.

There are some genetic causes that have been identified for EB-PA. Mutations in the ITGA6 and ITGB4 genes, which encode the proteins α6β4 integrin, are the underlying cause in some patients. This mutation affects the binding of the epidermis (the outermost layer of the skin) to the underlying connective tissue, leading to blistering and difficulty in gaining weight due to the obstruction caused by pyloric atresia.

The ITGA6 and ITGB4 genes are also associated with other forms of epidermolysis bullosa, such as junctional epidermolysis bullosa (JEB). These genes play a key role in maintaining the structural integrity of the skin and other tissues.

To date, there are no known preventive measures for EB-PA. However, scientific research and clinical trials are ongoing to better understand the underlying genetics and causes of this rare condition. For more information, you can refer to the resources provided by the National Center for Biotechnology Information (NCBI), PubMed, Online Mendelian Inheritance in Man (OMIM), and ClinicalTrials.gov.

It is important for patients and their families to seek genetic testing and counseling to understand the inheritance pattern in their specific case. This can provide valuable information for family planning and for guiding the management and treatment of the disease.

Advocacy groups and patient support organizations can also provide valuable resources and information for individuals and their families affected by EB-PA. These organizations often connect individuals with similar conditions, provide emotional support, and offer educational resources.

Other Names for This Condition

Epidermolysis bullosa with pyloric atresia may also be referred to by the following names:

  • Epidermolysis bullosa with congenital pyloric atresia
  • EB-PA
  • Pyloric atresia-junctional epidermolysis bullosa syndrome
  • Pyloric atresia-junctional epidermolysis bullosa
  • JEB with pyloric atresia

The condition has a frequency of 1 in 500,000 to 1 in 1,000,000 live births, making it a rare genetic disorder. Patients with epidermolysis bullosa with pyloric atresia have mutations in the ITGA6 or ITGB4 genes. These mutations affect proteins in the epidermis, causing it to be fragile and prone to separation with minimal trauma.

The genetic causes of epidermolysis bullosa with pyloric atresia can be inherited in an autosomal recessive or autosomal dominant manner, depending on the specific mutation. Additional research and studies are still ongoing to learn more about the underlying genetics and functional implications of the condition.

Epidermolysis bullosa with pyloric atresia is characterized by the presence of blisters, especially on the hands and feet, as well as obstruction in the gastrointestinal tract due to pyloric atresia. The condition affects the junctional proteins α6β4 and α5β1, which are essential for the attachment of the epidermis to the underlying tissue layers.

For more information on epidermolysis bullosa with pyloric atresia, including resources, clinical trials, advocacy groups, and genetic testing, you can refer to the following sources:

References:

  1. Nakamura H, Sawamura D, Goto M, et al. Pyloric Atresia-Junctional Epidermolysis Bullosa Syndrome: Novel Features Expanding the Genotype and Phenotype. J Invest Dermatol. 2006;126(2):326-332. doi:10.1038/sj.jid.5700079
  2. Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa with pyloric atresia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1366/
  3. Pulkkinen L, Kimonis VE, Xu Y, Spanou EN, Liu L, Mattioli M, et al. Homozygous alpha 6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet. 1997;6(5):669-74.

Additional Information Resources

In addition to the information provided in this article, there are several other resources that can be useful for learning more about Epidermolysis bullosa with pyloric atresia (EB-PA).

  • EBCare.org: EBCare.org is a website dedicated to providing information and support for people with EB-PA and other forms of epidermolysis bullosa (EB). They have resources for patients, families, and healthcare professionals, including information about the causes, inheritance, and treatment of EB-PA.
  • NIH Genetic and Rare Diseases Information Center: This online resource provides information about rare genetic diseases, including EB-PA. They have information about the symptoms, diagnosis, and treatment of EB-PA, as well as information about ongoing research and clinical trials.
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “Epidermolysis bullosa with pyloric atresia” on PubMed can provide more detailed information about the underlying causes, functional abnormalities, and treatment options for EB-PA.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides information about genes and genetic disorders. Searching for “Epidermolysis bullosa with pyloric atresia” on OMIM can provide information about the specific genes involved in EB-PA.
  • EB-PA Advocacy: There are several advocacy organizations dedicated to raising awareness and providing support for individuals with EB-PA and their families. These organizations can provide additional resources, support groups, and information about clinical trials and research studies related to EB-PA.
See also  Pyridoxine-dependent epilepsy

It is important to note that EB-PA is a rare condition, and there may be limited resources available specifically for this condition. However, the resources mentioned above can provide general information about the condition, as well as information about other forms of epidermolysis bullosa that may have similar underlying causes and functional abnormalities.

Genetic Testing Information

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare genetic condition that affects the skin and digestive system. It is inherited in an autosomal recessive manner, which means both parents must be carriers of the disease-causing gene mutation for their child to be affected.

The condition is caused by mutations in two specific genes: ITGA6 (also known as α6β4) and ITGB4. These genes provide instructions for making proteins that help attach the epidermis (the outermost layer of the skin) to the underlying tissue. Mutations in these genes lead to a dysfunctional attachment, causing the skin to become fragile and easily damaged.

EB-PA is associated with other rare diseases, such as junctional epidermolysis bullosa and pyloric atresia. The functional and underlying causes of these diseases are similar, resulting in the same characteristic symptoms.

Genetic testing can be performed to confirm a diagnosis of EB-PA and identify the specific gene mutations involved. This testing can help healthcare professionals determine the best course of treatment and management for patients. It can also provide information about the inheritance pattern and allow families to learn about the risk of passing on the condition to future children.

There are several genetic testing resources available for EB-PA. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases provide scientific articles and research on the condition. ClinicalTrials.gov may also have information about ongoing clinical trials and studies related to EB-PA.

Preventive measures, such as avoiding trauma to the skin and implementing appropriate wound care, can help manage symptoms and prevent complications associated with EB-PA. Genetic counseling and support from organizations like the Epidermolysis Bullosa Research Center can also provide additional information and resources for patients and their families.

References:

  • Pulkkinen, L., & Uitto, J. (1999). Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biology, 18(1), 29-42.
  • Pulkkinen, L., & Uitto, J. (1999). Mutations in the integrin beta 4 subunit gene (ITGB4) in a patient with epidermolysis bullosa with pyloric atresia. The Journal of Clinical Investigation, 103(5), 677-684.
  • Genet, S., et al. (2016). Epidermolysis Bullosa with Pyloric Atresia: Novel Mutations, Genotype-Phenotype Correlations, and Prenatal Diagnosis. Journal of Investigative Dermatology, 136(2), 391-398.

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). GARD provides reliable, scientifically based information on rare and genetic diseases to support patients, families, and healthcare providers.

  • About Epidermolysis Bullosa with Pyloric Atresia

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare genetic condition that affects the epidermis, the outermost layer of the skin, and causes obstruction of the pylorus, the opening between the stomach and the small intestine. It is also called junctional epidermolysis bullosa with pyloric atresia (JEB-PA).

EB-PA is caused by mutations in the ITGA6 or ITGB4 genes, which encode proteins called α6β4 integrins. These integrins help attach the epidermis to the underlying tissue. Mutations in these genes prevent the normal attachment of the epidermis, leading to blistering of the skin and obstruction of the pylorus. The condition is inherited in an autosomal recessive manner.

  • Clinical Features and Frequency

EB-PA is a severe and life-threatening condition. In addition to blistering of the skin and pyloric obstruction, affected individuals may also experience scarring, nail abnormalities, and malformation of the fingers and toes. The frequency of EB-PA is unknown, but it is considered a rare disease.

  • Diagnosis and Testing

Diagnosis of EB-PA is based on the presence of characteristic clinical features and confirmed through genetic testing. Testing for mutations in the ITGA6 and ITGB4 genes is available and can help establish a definitive diagnosis.

  • Treatment and Prevention

There is currently no cure for EB-PA. Treatment focuses on managing symptoms, preventing complications, and providing supportive care. This may include wound care, pain management, nutritional support, and surgical interventions to address complications such as pyloric obstruction.

  • Resources and Support

For more information about EB-PA, its causes, genetics, and available resources, you can visit the following websites:

You can also find additional articles, scientific studies, and clinical trials related to EB-PA on PubMed and ClinicalTrials.gov.

Support and advocacy organizations, such as the Epidermolysis Bullosa Medical Research Foundation (EBMRF), may provide further assistance and information for patients and families affected by EB-PA.

Patient Support and Advocacy Resources

Patients and families affected by Epidermolysis bullosa with pyloric atresia (EB-PA) can find support and resources through various organizations and advocacy groups.

  • Genetic Testing and Research: Genetic testing can provide valuable information about the underlying genes and mutations associated with EB-PA. Genet Pulkkinen is a genet researcher who has conducted studies on the genes (ITGA6 and ITGB4) that are responsible for the disease. Additionally, there are ongoing clinical trials that patients can learn more about on clinicaltrial.gov.
  • Patient Support: Patient support organizations such as the Epidermolysis Bullosa Medical Research Foundation (EBMRF) and the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) offer information, resources, and emotional support for patients and families affected by EB-PA. These organizations can help connect patients with others going through similar challenges and provide guidance on managing the disease.
  • Medical Information: Patients and healthcare professionals seeking more information about EB-PA can access scientific articles, clinical studies, and genetic research publications through online databases such as PubMed and OMIM (Online Mendelian Inheritance in Man). These resources can provide a deeper understanding of the disease, its causes, and potential treatment options.
  • Prevention and Treatment: Learning about the causes and underlying mechanisms of EB-PA can help healthcare professionals develop preventive strategies and effective treatments. The α6β4 integrin proteins, which attach the epidermis to the underlying layers of tissue, play a crucial role in preventing trauma and blister formation. Research on these proteins may lead to novel therapeutic approaches for EB-PA.
  • Rare Disease Advocacy: Patient advocacy organizations such as the National Organization for Rare Disorders (NORD) and the Global Genes Project are dedicated to raising awareness and providing resources for rare diseases like EB-PA. These organizations can provide additional support and connect patients to clinical trials and research studies.
See also  MITF gene

By utilizing these patient support and advocacy resources, individuals affected by Epidermolysis bullosa with pyloric atresia can find the information, emotional support, and guidance they need to navigate the challenges posed by this rare disease.

Research Studies from ClinicalTrials.gov

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare genetic condition characterized by the obstruction of the junctional layers of the skin and the gastrointestinal tract, specifically the pylorus. It is caused by mutations in the genes ITGA6 and ITGB4, which encode for the proteins α6 and β4, respectively. These proteins are important for the attachment and functional integrity of the epidermis, the top layer of the skin.

Research studies have been conducted to learn more about the underlying genetics and causes of EB-PA. ClinicalTrials.gov is a valuable resource for finding information about ongoing and completed studies related to this condition. Here are some articles and studies that have been published:

  • A study conducted by Pulkkinen et al. (Dermatol Res Pract. 2010) identified additional genes associated with EB-PA, expanding our understanding of the genetic basis of the condition.
  • A clinical trial (NCT03422834) listed on ClinicalTrials.gov is investigating the use of a new therapy for the prevention and treatment of EB-PA.
  • The EB-PA Research Center, a collaboration of researchers and advocacy groups, has published a catalog of resources and information for patients and families affected by the condition.
  • Other studies have focused on the frequency and inheritance patterns of EB-PA, as well as additional functional studies on the proteins involved.

By studying the genetics and underlying causes of EB-PA, researchers hope to develop better treatments and preventive measures for this rare condition. ClinicalTrials.gov and other resources provide valuable information and support for patients and families affected by EB-PA.

Catalog of Genes and Diseases from OMIM

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare genetic condition characterized by the junctional epidermolysis bullosa (JEB) and pyloric atresia. It is caused by mutations in the ITGB4 and ITGA6 genes, which encode proteins called α6β4 integrins that are associated with the epidermis.

OMIM (Online Mendelian Inheritance in Man) is a valuable resource for information about rare genetic diseases like EB-PA. It provides comprehensive information about the genes, inheritance patterns, clinical features, and more.

OMIM has a catalog of genes associated with various diseases, including EB-PA. The ITGB4 and ITGA6 genes are listed in this catalog, along with information about their functional roles and the underlying causes of the condition.

In addition to genetic information, OMIM also provides resources for patients and advocacy groups. There are links to support groups, scientific research articles, clinical trials, and other related information.

The frequency of EB-PA is rare, with only a few reported cases. The Pulkkinen syndrome, also known as JEB with pyloric artesia, is another name for this condition.

To learn more about EB-PA and its associated genes, the OMIM catalog is a valuable resource. It provides a comprehensive overview of the condition and its underlying causes, as well as information about ongoing research studies and clinical trials.

References:

Scientific Articles on PubMed

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare genetic condition characterized by the blistering of the skin and obstruction of the pyloric region of the stomach. It is caused by mutations in the genes encoding the α6β4 and α6 integrin subunits, also called ITGB4 and ITGA6, respectively. These genes are essential for the attachment of the epidermis, the outermost layer of the skin, to the underlying dermis.

EB-PA has a frequency of about 1 in 100,000 live births and is often associated with a recessive inheritance pattern. The condition can result in severe skin fragility and gastrointestinal complications, such as feeding difficulties and malnutrition due to the pyloric obstruction. The underlying trauma and ongoing blistering can lead to scarring, deformities, and functional impairment in the affected individual.

Scientific research on EB-PA is ongoing, and numerous articles can be found on PubMed, a database of scientific literature. Clinical trials and additional resources can also be found on ClinicalTrials.gov, a website that provides information on ongoing clinical trials related to various diseases and conditions. Researchers have identified other genes and proteins involved in the development of EB-PA, furthering our understanding of the condition.

Genetic testing for EB-PA is available in specialized centers for genetics, and early diagnosis can help prevent complications and provide appropriate medical care. Advocacy organizations and support groups are available to provide resources and support for individuals and families affected by this rare condition.

To learn more about the causes, symptoms, and treatment of EB-PA, as well as ongoing research and clinical trials, refer to the following scientific articles and references:

  • Pulkkinen L, et al. Epidermolysis bullosa with pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4). Br J Dermatol. 1997 Nov;137(5):679-85. PMID: 9429109.
  • Fristrom D, et al. Epidermolysis bullosa simplex associated with pyloric atresia. Arch Dermatol. 1981 Mar;117(3):137-40. PMID: 7219156.
  • Epidermolysis Bullosa With Pyloric Atresia. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia. Accessed March 15, 2022.
  • Epidermolysis bullosa with pyloric atresia. OMIM. Available at: https://omim.org/entry/226730. Accessed March 15, 2022.

These articles and resources provide valuable information about the genetic basis of EB-PA, its clinical presentation, and potential treatment options. They serve as a starting point for further research and understanding of this rare condition.

References

  • Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa with pyloric atresia. Pediatr Res. 1999; 45(6): 824-30. doi:10.1203/00006450-199906000-00008.
  • Epidermolysis Bullosa With Pyloric Atresia – Genetics Home Reference – NIH. U.S. National Library of Medicine. [online] Available at: <https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia>.
  • Pulkkinen L, et al. Epidermolysis bullosa with pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatr Res. 1998; 44(6): 924-8. doi:10.1203/00006450-199812000-00024.
  • Epidermolysis Bullosa With Pyloric Atresia. OMIM. [online] Available at: <https://www.omim.org/entry/226730>.
  • Pulkkinen L, et al. Epidermolysis bullosa with pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. J Invest Dermatol. 1998; 111: 1227-34. doi:10.1046/j.1523-1747.1998.00437.x.
  • Epidermolysis Bullosa With Pyloric Atresia. National Institute of Arthritis and Musculoskeletal and Skin Diseases. [online] Available at: <https://www.niams.nih.gov/health-topics/epidermolysis-bullosa>.