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Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling
BACKGROUND: Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proximal symphalangism have been identified in the clinic. One...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836329/ https://www.ncbi.nlm.nih.gov/pubmed/31694554 http://dx.doi.org/10.1186/s12881-019-0917-5 |