Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations

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...

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Main Authors: P. Kantaputra, M. Kaewgahya, D. Jotikasthira, W. Kantaputra
格式: 雜誌
出版: 2018
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在線閱讀:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84896315418&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/53258
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機構: Chiang Mai University