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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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Xiong, Jing, Tu, Wei, Yan, Yifei, Xiao, Kai, Yao, Yanyi, Li, Shouxin, Yang, Liu, Zhou, Min, Liu, Yang, Hu, Jin, Zhu, Feng
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Genetics
Acesso em linha: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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