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. Whol...

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Detalles Bibliográficos
Autores principales: Li, Mojiang, Li, Yingshu, Liu, Huixing, Zhou, Haiyan, Xie, Wanqin, Peng, Qinghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554500/
https://www.ncbi.nlm.nih.gov/pubmed/36246610
http://dx.doi.org/10.3389/fgene.2022.1014188

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554500/
https://www.ncbi.nlm.nih.gov/pubmed/36246610
http://dx.doi.org/10.3389/fgene.2022.1014188

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