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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.

AuthorsRamon Y Birnbaum, Daniella Landau, Khalil Elbedour, Rivka Ofir, Ohad S Birk, Rivka Carmi
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 146A Issue 8 Pg. 1063-6 (Apr 15 2008) ISSN: 1552-4833 [Electronic] United States
PMID18348258 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Fibronectins
  • Integrin beta4
Topics
  • Ectodermal Dysplasia (genetics)
  • Epidermolysis Bullosa (genetics)
  • Exons (genetics)
  • Fibronectins (chemistry, genetics)
  • Humans
  • Integrin beta4 (chemistry, genetics)
  • Pedigree
  • Pylorus (abnormalities)
  • Sequence Deletion
  • Syndrome

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