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Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions
BACKGROUND: Proximal symphalangism (SYM1) is a rare genetic bone disorder characterized by the fusion of proximal interphalangeal joints in the hands and feet. Genetic studies have identified two genes underlying SYM1 as the noggin (NOG) and the growth differentiation factor 5 (GDF5). CASE REPORT: I...
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| Publicat a: | Front Genet |
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| Autors principals: | , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6499182/ https://ncbi.nlm.nih.gov/pubmed/31105738 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00353 |
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