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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Detalles Bibliográficos
Autores principales: Xiong, Jing, Tu, Wei, Yan, Yifei, Xiao, Kai, Yao, Yanyi, Li, Shouxin, Yang, Liu, Zhou, Min, Liu, Yang, Hu, Jin, Zhu, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499182/
https://www.ncbi.nlm.nih.gov/pubmed/31105738
http://dx.doi.org/10.3389/fgene.2019.00353

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499182/
https://www.ncbi.nlm.nih.gov/pubmed/31105738
http://dx.doi.org/10.3389/fgene.2019.00353

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