Epidermolysis bullosa with pyloric atresia: Novel mutations in the β4 integrin gene, phenotype/genotype correlations, and DNA-based prenatal testing

Deletion of the first pair of fibronecti

Deletion of the first pair of fibronectin type III repeats of the integrin β-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; R 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 147 KB 👁 1 views

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