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Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.

Experimental eye research - 1 Sept 2023

Guo Dongwei, Liu Liyan, Yang Fengmei, Young Charlotte Aimee, Zheng Danying, Jin Guangming

Abstract excerpt

Weill-Marchesani syndrome (WMS) manifests as ectopia lentis (EL), microspherophakia and short stature, which is caused by ADAMTS10, LTBP2, or ADAMTS17 gene defects. This study aims to investigate the characteristics and genotype-phenotype correlations of WMS with ADAMTS17 mutations. WMS patients with ADAMTS17 variants were identified by whole-exome sequencing from 185 patients with EL. All the included patients...

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PMID: 37506754
DOI: 10.1016/j.exer.2023.109606

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