Epidermolysis bullosa with pyloric atresia

17q11-qter, Chr.2 GeneReviews Google OMIM PubMed [EBS-PA] [Epidermolysis bullosa]

*Gene map locus 17q11-qter, Chr.2

Aplasia cutis congenita with gastrointestinal atresia

Carmi syndrome

EB-PA

[Clinical features: lethal in infancy; blistering of the skin and mucous membranes; gastrointestinal abnormalities, including esophageal, pyloric, or duodenal atresia]

[Inheritance: autosomal recessive]


Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense	Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense	Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia
American Journal of Human Genetics	American Journal of Human Genetics	Human Molecular Genetics


Carmi Syndrome Complicated by Pharyngo-Esophageal Perforation	Carmi Syndrome Complicated by Pharyngo-Esophageal Perforation
Indian Pediatrics	Indian Pediatrics

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Edited by Aldo Campana, March 14, 2010