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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Veröffentlicht in:BMC Genet
Hauptverfasser: Yuan, Yongyi, Gao, Xue, Huang, Bangqing, Lu, Jingqiao, Wang, Guojian, Lin, Xi, Qu, Yan, Dai, Pu
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2016
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4736096/
https://ncbi.nlm.nih.gov/pubmed/26832775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12863-016-0333-1
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