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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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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| 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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