Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in >40 genes associated with nonsyndromic hearing loss, to date. Whereas autosomal recessive and autosomal dominant inheritance is prevalent, X-linked forms of...

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Hauptverfasser: Rost, Simone, Bach, Elisa, Neuner, Cordula, Nanda, Indrajit, Dysek, Sandra, Bittner, Reginald E, Keller, Alexander, Bartsch, Oliver, Mlynski, Robert, Haaf, Thomas, Müller, Clemens R, Kunstmann, Erdmute
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2014
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3895628/
https://ncbi.nlm.nih.gov/pubmed/23714752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.108
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