Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?

The molecular etiology of nonsyndromic sensorineural hearing loss (SNHL) in subjects with only one detectable autosomal recessive GJB2 mutation is unclear. Here, we report GJB2 single heterozygotes with various final genetic diagnoses and suggest appropriate diagnostic strategies. A total of 160 sub...

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Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: Kim, So Young, Kim, Ah Reum, Kim, Nayoung K. D., Lee, Chung, Kim, Min Young, Jeon, Eun-Hee, Park, Woong-Yang, Choi, Byung Yoon
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Health 2016
Assuntos:
3500
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4998745/
https://ncbi.nlm.nih.gov/pubmed/27057829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000003029
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