A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine

Hereditary sensorineural hearing loss is an extremely clinical and genetic heterogeneous disorder in humans. Especially, syndromic hearing loss is subdivided by combinations of various phenotypes, and each subtype is related to different genes. We present a new form of progressive hearing loss with...

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Publicado no:Eur J Hum Genet
Main Authors: Oh, Se-Kyung, Baek, Jeong-In, Weigand, Karl M, Venselaar, Hanka, Swarts, Herman G P, Park, Seong-Hyun, Hashim Raza, Muhammad, Jung, Da Jung, Choi, Soo-Young, Lee, Sang-Heun, Friedrich, Thomas, Vriend, Gert, Koenderink, Jan B, Kim, Un-Kyung, Lee, Kyu-Yup
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402630/
https://ncbi.nlm.nih.gov/pubmed/25138102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.154
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