Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report

Xiaowei Yu(Beijing Tongren Hospital), Yan Shi(Beijing Tongren Hospital), Brad Kline(University of California, San Francisco), Yan Gao(Institute of Cardiology), Zhigang Fan(First Affiliated Hospital of Xi'an Jiaotong University), Ying Han(Wuhan Hankou Hospital)
American Journal of Ophthalmology Case Reports
April 14, 2022
10.1016/j.ajoc.2022.101541
Cited by 9

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