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

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

BackgroundProximal 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 ReportIn the...

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Bibliographic Details
Main Authors: Jing Xiong, Wei Tu, Yifei Yan, Kai Xiao, Yanyi Yao, Shouxin Li, Liu Yang, Min Zhou, Yang Liu, Jin Hu, Feng Zhu
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Genetics
Subjects:
proximal symphalangism
tarsal coalition
NOG gene
mutation
whole exome sequencing
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00353/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00353/full

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