title: 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.
authors.affiliation: The Morris Kahn Laboratory of Human Genetics, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of Negev, Beer-Sheva, Israel.
authors.forename: Ramon Y
authors.initials: RY
authors.lastname: Birnbaum
authors.forename: Daniella
authors.initials: D
authors.lastname: Landau
authors.forename: Khalil
authors.initials: K
authors.lastname: Elbedour
authors.forename: Rivka
authors.initials: R
authors.lastname: Ofir
authors.forename: Ohad S
authors.initials: OS
authors.lastname: Birk
authors.forename: Rivka
authors.initials: R
authors.lastname: Carmi
mesh_terms: D004476:Ectodermal Dysplasia / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005353:Fibronectins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D039663:Integrin beta4 / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D011708:Pylorus / Q000002:abnormalities*; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: D005353:Fibronectins; D039663:Integrin beta4