Open AccessTwo Novel TP63 Mutations Associated With the Ankyloblepharon, Ectodermal Defects, and Cleft Lip and Palate Syndrome
Author(s) -
Aimee Payne,
Albert C. Yan,
Erum N Ilyas,
Weijie Li,
John T. Seykora,
Terri L. Young,
Bruce Pawel,
Paul J. Honig,
Jeanette Camacho,
Sonia Imaizumi,
Warren R. Heymann,
Rhonda E. Schnur
Publication year - 2005
Publication title -
archives of dermatology
Language(s) - English
Resource type - Journals
eISSN - 1538-3652
pISSN - 0003-987X
DOI - 10.1001/archderm.141.12.1567
Subject(s) - hemidesmosome , missense mutation , acantholysis , medicine , pathology , ectodermal dysplasia , dermatology , biology , mutation , genetics , basement membrane , immunology , gene , antibody , autoantibody
Ankyloblepharon, ectodermal defects, and cleft lip and palate (AEC) syndrome is a rare autosomal dominant disorder caused by mutations in the sterile alpha motif region of TP63, a homologue of the tumor suppressor TP53. Recent structure-function studies have identified complexities in the genotype-phenotype correlation of the p63 syndromes.
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