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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Sha, Yanwei, Ma, Ding, Zhang, Ning, Wei, Xiaoli, Liu, Wensheng, Wang, Xiong
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6670124/
https://ncbi.nlm.nih.gov/pubmed/31370824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0864-1
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