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A heterozygous mutation of WNT10A gene caused congenital hypodontia and anterior crossbite

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Author:
No author available
Journal Title:
Chinese Journal of Stomatology
Issue:
2
DOI:
10.3760/cma.j.cn112144-20221018-00537
Key Word:
No keyword available

Abstract: 本文报道1例以多数牙先天缺失伴前牙反 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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