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.
Birnbaum
Ramon Y
RY
The Morris Kahn Laboratory of Human Genetics, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of Negev, Beer-Sheva, Israel.
Landau
Daniella
D
Elbedour
Khalil
K
Ofir
Rivka
R
Birk
Ohad S
OS
Carmi
Rivka
R
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
D005353:Fibronectins; D039663:Integrin beta4