Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations

• المؤلفون الرئيسيون: P. Kantaputra, M. Kaewgahya, D. Jotikasthira, W. Kantaputra
• التنسيق: دورية
• منشور في: 2018
• الموضوعات: Biochemistry, Genetics and Molecular Biology; Medicine
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84896315418&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/53258

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...