Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family

BACKGROUND: Proximal symphalangism (SYM1; OMIM 185800), also called Cushing’s symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal joints in the hands and feet. METHODS: We recruited a four-generation Chinese non-c...

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Detalles Bibliográficos
Autores principales: Sha, Yanwei, Ma, Ding, Zhang, Ning, Wei, Xiaoli, Liu, Wensheng, Wang, Xiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670124/
https://www.ncbi.nlm.nih.gov/pubmed/31370824
http://dx.doi.org/10.1186/s12881-019-0864-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670124/
https://www.ncbi.nlm.nih.gov/pubmed/31370824
http://dx.doi.org/10.1186/s12881-019-0864-1

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