Article
[A heterozygous mutation of WNT10A gene caused congenital hypodontia and anterior crossbite].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology - 9 Feb 2023
Xu J, Mao Z, Jia Y F, Qi H C, Qiu T Y, Mao F, Hu M
Abstract excerpt
本文报道1例以多数牙先天缺失伴前牙反(牙合)为临床表现的患者，其父母临床表型未见异常，采用二代测序技术对先证者及其父母进行致病基因鉴定，测序结果显示先证者携带WNT10A基因的杂合突变c.791G>T；p.Cys264Phe，家系鉴定证实该错义突变遗传自母亲。对该家系的临床和遗传资料进行分析，讨论先证者的临床治疗并深入理解WNT10A突变在先天缺牙致病机制中的作用。.
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