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Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions

BACKGROUND: Proximal symphalangism (SYM1) is a rare genetic bone disorder characterized by the fusion of proximal interphalangeal joints in the hands and feet. Genetic studies have identified two genes underlying SYM1 as the noggin (NOG) and the growth differentiation factor 5 (GDF5). CASE REPORT: I...

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Publicat a:Front Genet
Autors principals: Xiong, Jing, Tu, Wei, Yan, Yifei, Xiao, Kai, Yao, Yanyi, Li, Shouxin, Yang, Liu, Zhou, Min, Liu, Yang, Hu, Jin, Zhu, Feng
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6499182/
https://ncbi.nlm.nih.gov/pubmed/31105738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00353
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