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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Dettagli Bibliografici
Pubblicato in:Medicine (Baltimore)
Autori principali: Kim, So Young, Kim, Ah Reum, Kim, Nayoung K. D., Lee, Chung, Kim, Min Young, Jeon, Eun-Hee, Park, Woong-Yang, Choi, Byung Yoon
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer Health 2016
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3500
Accesso online: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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