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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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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 |