DermKnowledgeBASE: Ankyloblepharon ectodermal Dysplasia clefting Syndrome

Ankyloblepharon ectodermal Dysplasia clefting Syndrome

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The text is the summary of recent articles on Ankyloblepharon ectodermal Dysplasia clefting Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.

Our results, therefore, provide evidence for a regulatory feedback mechanism for p63 that links transcriptional activity to regulation of protein homeostasis by an unknown mechanism [1]. Several missense and heterozygous frame shift mutations, encoded within exon 13 and 14 of the p63 gene, have been identified in the p63α SAM domain in patients suffering from ankyloblepharon-ectodermal dysplasia-clefting syndrome [2]. Mutations in the p63 gene recently have been shown to be etiologic in the majority of cases of ankyloblepharon-ectodermal dysplasia-clefting syndrome [3]. To date, there have been no reports to document wound healing after cleft Lip and/or palate repair in ankyloblepharon-ectodermal dysplasia-clefting patients [4]. We describe two patients with ankyloblepharon-ectodermal dysplasia-clefting syndrome and provide a review of the literature [5].

There have been no reported instances of wound healing complications in affected patients [6]. RHS has obvious phenotypic overlap with other ectodermal dysplasia-clefting syndromes (EDCS), such as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) and ankyloblepharon-ectodermal dysplasia-clefting syndrome (AEC), all of which show MCT [7].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 ,

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