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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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| 出版年: | Front Genet |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2019
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| 主題: | |
| オンライン･アクセス: | 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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