Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome.

Na Miao,Yao Zhang,Jin-Ying Liao, Lin Zhou,Ji-Cai He,Rong-Qin Yang,Xu-Yang Liu,Li Tang

International journal of ophthalmology（2023）

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摘要

A novel homozygous missense variant of is identified in a WMS family with a history of consanguineous marriage. Our study expands the range of mutations associated with WMS and deepens our understanding of pathology in disease associated with variants.

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关键词

homozygous adamts17 missense variant,syndrome,weill-marchesani

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