Mojiang Li Yingshu Li Huixing Liu Haiyan Zhou Wanqin Xie Qinghua Peng
10.3389/fgene.2022.1014188
Front Genet
2022 Sep 28;13:1014188.
adamtsl2 weill-marchesani syndrome acromelic dysplasias geleophysic dysplasia high myopia lens subluxation microspherophakia missense mutation
CC BY
https://pubmed.ncbi.nlm.nih.gov/36246610/
Case Reports
PMC9554500
36246610
Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome
2022