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Article

Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?

American journal of medical genetics. Part A - 15 Jul 2007

Kenna Margaret A, Rehm Heidi L, Robson Caroline D, Frangulov Anna, McCallum Jennifer, Yaeger Dinah, Krantz Ian D

Abstract excerpt

Sensorineural hearing loss (SNHL), the most common sensory impairment noted at birth, occurs in 3 out of every 1,000 births live births. At least half of congenital SNHL is genetic in origin, with nonsyndromic, or isolated hearing loss, accounting for approximately 70% of the total genetic causes. Syndromic hearing loss (hearing loss associated with other clinical findings) makes up the remaining 30%. Worldwide,...

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Identifiers

PMID: 17455295
DOI: 10.1002/ajmg.a.31706

Genes

GJB2

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