Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.

Source:http://linkedlifedata.com/resource/pubmed/id/18348258

Am. J. Med. Genet. A 2008 Apr 15 146A 8 1063-6

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18348258