Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia

Several ectodermal dysplasia syndromes, including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Dysplasia-Clefting (AEC) syndromes, are known to result from mutations in the p63 gene. We investigated whether Rapp-Hodgkin syndrome (RHS) is also caused by mutations in...

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Bibliographic Details
Main Authors: Kantoputra P.N., Hamada T., Kumchai T., McGrath J.A.
Format: Article
Language:English
Published: 2014
Online Access:http://www.scopus.com/inward/record.url?eid=2-s2.0-0037493688&partnerID=40&md5=c38ead7b1332a48bcd506fae96d9ecfa
http://www.ncbi.nlm.nih.gov/pubmed/12766194
http://cmuir.cmu.ac.th/handle/6653943832/1084
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Institution: Chiang Mai University
Language: English