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Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.

Ophthalmic research - 1 Jan 2024

Chen Juan, Wan Jifeng, Jin Jiayi, Jin Guangming, Zheng Yongxin, Zheng Danying, Zhong Liuxueying

Abstract excerpt

INTRODUCTION: Weill-Marchesani syndrome (WMS) is a hereditary connective tissue disorder with substantial heterogeneity in clinical features and genetic etiology, so it is essential to define the full mutation spectrum for earlier diagnosis. In this study, we report Weill-Marchesani-like syndrome (WMS-like) change to autosomal dominance inheritance caused by novel haplotypic mutations in latent transforming...

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PMID: 38772353
DOI: 10.1159/000538844

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