The role of GTF2IRD1 in the auditory pathology of Williams–Beuren Syndrome

Williams–Beuren Syndrome (WBS) is a rare genetic condition caused by a hemizygous deletion involving up to 28 genes within chromosome 7q11.23. Among the spectrum of physical and neurological defects in WBS, it is common to find a distinctive response to sound stimuli that includes extreme adverse re...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Canales, Cesar P, Wong, Ann C Y, Gunning, Peter W, Housley, Gary D, Hardeman, Edna C, Palmer, Stephen J
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795059/
https://ncbi.nlm.nih.gov/pubmed/25248400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.188
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