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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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Principais autores: Mojiang Li, Yingshu Li, Huixing Liu, Haiyan Zhou, Wanqin Xie, Qinghua Peng
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-09-01
coleção:Frontiers in Genetics
Assuntos:
ADAMTSL2
geleophysic dysplasia
Weill-Marchesani syndrome
acromelic dysplasias
missense mutation
microspherophakia
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2022.1014188/full
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