Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

In a consanguineous Turkish family diagnosed with autosomal recessive nonsyndromic hearing impairment (arNSHI), a homozygous region of 47.4 Mb was shared by the two affected siblings on chromosome 6p21.1-q15. This region contains 247 genes including the known deafness gene MYO6. No pathogenic varian...

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Bibliografische gegevens
Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: Seco, Celia Zazo, Oonk, Anne MM, Domínguez-Ruiz, María, Draaisma, Jos MT, Gandía, Marta, Oostrik, Jaap, Neveling, Kornelia, Kunst, Henricus PM, Hoefsloot, Lies H, del Castillo, Ignacio, Pennings, Ronald JE, Kremer, Hannie, Admiraal, Ronald JC, Schraders, Margit
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2015
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4297911/
https://ncbi.nlm.nih.gov/pubmed/24781754
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.83
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