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...

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Detalles Bibliográficos
Autores principales: Sonoyama, Toru, Ishino, Takashi, Ogawa, Yui, Oda, Takashi, Takeno, Sachio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
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

Internet

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

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