Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

PURPOSE: Hearing loss (HL) is the most common sensory disorder in children. Prompt molecular diagnosis may guide screening and management, especially in syndromic cases when HL is the single presenting feature. Exome sequencing (ES) is an appealing diagnostic tool for HL as the genetic causes are hi...

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Pubblicato in:Genet Med
Autori principali: Sheppard, Sarah, Biswas, Sawona, Li, Mindy H., Jayaraman, Vijayakumar, Slack, Ian, Romasko, Edward J., Sasson, Ariella, Brunton, Joshua, Rajagopalan, Ramakrishnan, Sarmady, Mahdi, Abrudan, Jenica L., Jairam, Sowmya, DeChene, Elizabeth T., Ying, Xiahoan, Choi, Jiwon, Wilkens, Alisha, Raible, Sarah E., Scarano, Maria I., Santani, Avni, Pennington, Jeffrey W., Luo, Minjie, Conlin, Laura K., Devkota, Batsal, Dulik, Matthew C., Spinner, Nancy B., Krantz, Ian D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group US 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6295269/
https://ncbi.nlm.nih.gov/pubmed/29907799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0004-x
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