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

• المؤلفون الرئيسيون: Kantoputra P.N., Hamada T., Kumchai T., McGrath J.A.
• التنسيق: مقال
• اللغة: English
• منشور في: 2014
• الوصول للمادة أونلاين: 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
• المؤسسة: Chiang Mai University

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...