Cargando…
Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
Multiple bone disorders due to mutations in the human noggin (NOG) causes a variety of phenotypes. Hearing impairment due to stapes ankylosis secondary to bony degeneration is also a feature of these syndromes. We describe the case of an individual in a Japanese family with conductive hearing loss d...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10097708/ https://www.ncbi.nlm.nih.gov/pubmed/37045840 http://dx.doi.org/10.1038/s41439-023-00236-x |