دورية
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss
| العنوان: | Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss |
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| المؤلفون: | 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. |
| المصدر: | Genetics in Medicine; December 2018, Vol. 20 Issue: 12 p1663-1676, 14p |
| مستخلص: | 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 highly heterogeneous. |
| قاعدة البيانات: | Supplemental Index |
Full Text Finder | تدمد: | 10983600 15300366 |
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| DOI: | 10.1038/s41436-018-0004-x |