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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2016
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4998745/
https://www.ncbi.nlm.nih.gov/pubmed/27057829
http://dx.doi.org/10.1097/MD.0000000000003029

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4998745/
https://www.ncbi.nlm.nih.gov/pubmed/27057829
http://dx.doi.org/10.1097/MD.0000000000003029

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