Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

BACKGROUND: Genetic factors play an important role in hearing loss, contributing to approximately 60 % of cases of congenital hearing loss. Autosomal dominant deafness accounts for approximately 20 % of cases of hereditary hearing loss. Diseases with autosomal dominant inheritance often show pleiotr...

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Detalles Bibliográficos
Autores principales: Yuan, Yongyi, Gao, Xue, Huang, Bangqing, Lu, Jingqiao, Wang, Guojian, Lin, Xi, Qu, Yan, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736096/
https://www.ncbi.nlm.nih.gov/pubmed/26832775
http://dx.doi.org/10.1186/s12863-016-0333-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736096/
https://www.ncbi.nlm.nih.gov/pubmed/26832775
http://dx.doi.org/10.1186/s12863-016-0333-1

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