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

Am J Med Genet A. 2008 Apr 15;146A(8):1063-6. doi: 10.1002/ajmg.a.31903.

Authors

Ramon Y Birnbaum¹, Daniella Landau, Khalil Elbedour, Rivka Ofir, Ohad S Birk, Rivka Carmi

Affiliation

¹ The Morris Kahn Laboratory of Human Genetics, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of Negev, Beer-Sheva, Israel.

PMID: 18348258
DOI: 10.1002/ajmg.a.31903

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Ectodermal Dysplasia / genetics*
Epidermolysis Bullosa / genetics*
Exons / genetics
Fibronectins / chemistry
Fibronectins / genetics*
Humans
Integrin beta4 / chemistry
Integrin beta4 / genetics*
Pedigree
Pylorus / abnormalities*
Sequence Deletion*
Syndrome

Substances

Fibronectins
Integrin beta4