Journal
OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA
Volume 48, Issue 6, Pages 1041-1061Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.otc.2015.07.007
Keywords
Deafness; Hearing loss; Genetics; Genome; Sequencing
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Funding
- National Institutes of Health (NIH)/NIDCD [R01DC011835]
- I-CORE Gene Regulation in Complex Human Disease Center [41/11]
- Israel Science Foundation [1320/11]
- Human Frontier Science Program [RGP0012/2012]
- United States-Israel Binational Science Foundation (BSF) [2013027]
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Hearing loss (HL) is one of the most common birth defects in developed countries and is a diverse pathologic condition with different classifications. One of these is based on the association with other clinical features, defined as syndromic hearing loss (SHL). Determining the cause of the HL in these patients is extremely beneficial as it enables a personalized approach to caring for the individual. Early screening can further aid in optimal rehabilitation for a child's development and growth. The advancement of high-throughput sequencing technology is facilitating rapid and low-cost diagnostics for patients with SHL.
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