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Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation

BACKGROUND: The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness. METHODS: In a retrospective study, clinical data...

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Detalles Bibliográficos
Autores principales: Yu, Rong, Jiang, Hongqun, Liao, Huihuang, Luo, Wugen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733265/
https://www.ncbi.nlm.nih.gov/pubmed/33308208
http://dx.doi.org/10.1186/s12920-020-00843-5