Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense
American Journal of Human Genetics
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17q11-qter, 2q31.1 GeneReviews Google OMIM PubMed [EBS-PA] [Epidermolysis bullosa] Epidermolysis bullosa junctionalis with pyloric atresia *Gene map locus 17q11-qter, 2q31.1 Aplasia cutis congenita with gastrointestinal atresia Carmi syndrome EB-PA-ACC Epidermolysis bullosa, junctional, with pyloric atresia Epidermylosis bullosa, junctional, with pyloric atresia and aplasia cutis congenita JEB-PA Junctional epidermolysis bullosa with pyloric atresia [Clinical features: lethal in infancy; blistering of the skin and mucous membranes; gastrointestinal abnormalities, including esophageal, pyloric, or duodenal atresia] [Inheritance: autosomal recessive] |
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Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense |
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American Journal of Human Genetics |
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Edited by Aldo Campana,
August 21, 2012
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