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Article

Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.

PloS one - 1 Jan 2013

Choi Byung Yoon, Park Gibeom, Gim Jungsoo, Kim Ah Reum, Kim Bong-Jik, Kim Hyo-Sang, Park Joo Hyun, Park Taesung, Oh Seung-Ha, Han Kyu-Hee, Park Woong-Yang

Abstract excerpt

Identification of causative genes for hereditary nonsyndromic hearing loss (NSHL) is important to decide treatment modalities and to counsel the patients. Due to the genetic heterogeneity in sensorineural genetic disorders, the high-throughput method can be adapted for the efficient diagnosis. To this end, we designed a new diagnostic pipeline to screen all the reported candidate genes for NSHL. For validation of...

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Identifiers

PMID: 23990876
DOI: 10.1371/journal.pone.0068692
PMCID: PMC3750053

Genes

COCH
EYA4
GJB2
GJB3
MYO6
OTOF
STRC
WFS1

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