Article
A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon.
The British journal of dermatology - 1 Aug 2003
Tsutsui K, Asai Y, Fujimoto A, Yamamoto M, Kubo M, Hatta N
Abstract excerpt
We present a sporadic case of a Japanese female infant with ectodermal dysplasia, complete cleft lip and palate, severe skin erosions at birth and recurrent scalp infection. She had typical clinical features of ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon. Histological and immunohistochemical analyses showed reduced granular cell layers and aberrant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.