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.

Ramon Y Birnbaum Daniella Landau Khalil Elbedour Rivka Ofir Ohad S Birk Rivka Carmi

Am J Med Genet A

The Morris Kahn Laboratory of Human Genetics, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of Negev, Beer-Sheva, Israel.

Published: April 2008

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http://dx.doi.org/10.1002/ajmg.a.31903	DOI Listing

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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.

Download full-text PDF

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Similar Publications

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