Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome

AIM: To explore the phenotype and genotype of Weill-Marchesani syndrome (WMS) in a Chinese family and review related literature. METHODS: Three WMS patients and other unaffected individuals in this family with a history of consanguineous marriage were included in this study. Medical history, compreh...

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Bibliographic Details
Published in:International Journal of Ophthalmology
Main Authors: Na Miao, Yao Zhang, Jin-Ying Liao, Lin Zhou, Ji-Cai He, Rong-Qin Yang, Xu-Yang Liu, Li Tang
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2023-05-01
Subjects:
weill-marchesani syndrome
adamts17
missense variation
molecular genetics
Online Access:http://ies.ijo.cn/en_publish/2023/5/20230504.pdf

Internet

http://ies.ijo.cn/en_publish/2023/5/20230504.pdf

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