Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep45973.pdf
Reference40 articles.
1. Xing, G. et al. Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. Genet Med 17, 210–218 (2015).
2. Hilgert, N., Smith, R. J. & Van Camp, G. Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med 9, 546–564 (2009).
3. Morton, C. C. & Nance, W. E. Newborn hearing screening–a silent revolution. N Engl J Med 354, 2151–2164 (2006).
4. Smith, R. J. & Hone, S. Genetic screening for deafness. Pediatr Clin North Am 50, 315–329 (2003).
5. Kim, N. K. et al. Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population. Genet Med 17, 901–911 (2015).
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