Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.

Nayoung K D KimAh Reum KimKyung Tae ParkSo Young KimMin Young KimJae-Yong NamSe Joon WooSeung-Ha OhWoong-Yang ParkByung Yoon Choi

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

Mild to moderate pediatric SNHL, even if sporadic, features a strong genetic etiology and can manifest via diverse modes of inheritance. In addition, a multidisciplinary approach should be used for a correct diagnosis.

Keyphrases

mitochondrial dna
late onset
amyotrophic lateral sclerosis
copy number
genome wide
early onset
quality improvement
dna methylation
gene expression