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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...
Autores principales: | 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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group US
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295269/ https://www.ncbi.nlm.nih.gov/pubmed/29907799 http://dx.doi.org/10.1038/s41436-018-0004-x |
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