Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism

Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and conductive hearing loss in some cases. Herein, we clinically diagnosed a Chinese patient with fusions of the bilateral proxima...

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Detalles Bibliográficos
Autores principales: Yuan, Zhuang-Zhuang, Yu, Fang, Jin, Jie-Yuan, Jiao, Zi-Jun, Tang, Ju-Yu, Xiang, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2020
Materias:
Mutation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295635/
https://www.ncbi.nlm.nih.gov/pubmed/32478388
http://dx.doi.org/10.1042/BSR20200509

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295635/
https://www.ncbi.nlm.nih.gov/pubmed/32478388
http://dx.doi.org/10.1042/BSR20200509

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