Case report: A homozygous <i>ADAMTSL2</i> missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome.

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作者： Mojiang,Li ^[1] ; Yingshu,Li ^[2] ; Huixing,Liu ^[3] ; Haiyan,Zhou ^[3] ; Wanqin,Xie ^[4] ; Qinghua,Peng ^[5]

作者单位： Hunan University of Chinese Medicine, Changsha, China. ^[1] The First Affiliated Hospital of Hunan University of Chinese Medicine, Changsha, China. ^[2] Department of Vision Center, Liuyang Jili Hospital (Liuyang Eye Hospital), Changsha, China. ^[3] Department of Ophthalmology (Division II), Liuyang Jili Hospital (Liuyang Eye Hospital), Changsha, China. ^[4] National Health Committee Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China. ^[5]

关键词 ADAMTSL2 Weill-Marchesani syndrome acromelic dysplasias geleophysic dysplasia high myopia lens subluxation microspherophakia missense mutation

DOI 10.3389/fgene.2022.1014188

PMID 36246610

发布时间 2022-10-19

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Frontiers in genetics

2022年13卷

1014188页

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Case report: A homozygous <i>ADAMTSL2</i> missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome.

Frontiers in genetics

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Frontiers in genetics

相关期刊

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Case report: A homozygous <i>ADAMTSL2</i> missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome.

Frontiers in genetics

相似文献

Frontiers in genetics

相关期刊

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