Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations

• المؤلفون الرئيسيون: Kantaputra P., Kaewgahya M., Jotikasthira D., Kantaputra W.
• التنسيق: مقال
• اللغة: English
• منشور في: Wiley-Liss Inc. 2014
• الوصول للمادة أونلاين: http://www.scopus.com/inward/record.url?eid=2-s2.0-84896315418&partnerID=40&md5=47b7cb203f370f3817d1dee892e8ce3f; http://cmuir.cmu.ac.th/handle/6653943832/1187
• المؤسسة: Chiang Mai University

We report on three novel (IVS2+1G>A splice site, c.1066G>T, and c.1039G>T, and one previously reported (c.637G>A) WNT10A mutations in three patients affected with odonto-onycho-dermal dysplasia (OODD; OMIM 275980). OODD is a rare form of autosomal recessive ectodermal dysplasia involving...