Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
Soggetti:
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !