Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48). Here, a novel homozygous missense variant c.196C>T and compound heterozygous variants, c.[97C>T][196C>T], were found, respectively, in two unrelated families of Dutch origi...

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Udgivet i:Eur J Hum Genet
Main Authors: Seco, Celia Zazo, Giese, Arnaud P, Shafique, Sobia, Schraders, Margit, Oonk, Anne M M, Grossheim, Mike, Oostrik, Jaap, Strom, Tim, Hegde, Rashmi, van Wijk, Erwin, Frolenkov, Gregory I, Azam, Maleeha, Yntema, Helger G, Free, Rolien H, Riazuddin, Saima, Verheij, Joke B G M, Admiraal, Ronald J, Qamar, Raheel, Ahmed, Zubair M, Kremer, Hannie
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929876/
https://ncbi.nlm.nih.gov/pubmed/26173970
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.157
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