Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome

Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome

Background: Geleophysic dysplasia and Weill-Marchesani syndrome from the acromelic dysplasias group of genetic skeletal disorders share remarkable clinical and genetic overlap.Methods: Ophthalmological, physical, radiological examinations were conducted with a female patient in her early 30 s. Whole...

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Bibliographic Details
Main Authors: Mojiang Li, Yingshu Li, Huixing Liu, Haiyan Zhou, Wanqin Xie, Qinghua Peng
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Genetics
Subjects:
ADAMTSL2
geleophysic dysplasia
Weill-Marchesani syndrome
acromelic dysplasias
missense mutation
microspherophakia
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1014188/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.1014188/full

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