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17q11-qter, Chr.2 GeneReviews Google OMIM PubMed [EBS-PA] [Epidermolysis bullosa] Epidermolysis bullosa with pyloric atresia *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] |
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Carmi Syndrome Complicated by Pharyngo-Esophageal Perforation |
Carmi Syndrome Complicated by Pharyngo-Esophageal Perforation |
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Indian Pediatrics |
Indian Pediatrics |
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Edited by Aldo Campana,
March 14, 2010
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