학술논문
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss
Document Type
Article
Author
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.
Source
Genetics in Medicine; December 2018, Vol. 20 Issue: 12 p1663-1676, 14p
Subject
Language
ISSN
10983600; 15300366
Abstract
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.