TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad

BACKGROUND: Sensorineural hearing loss (SNHL) is a common form of hearing loss that can be inherited or triggered by environmental insults; auditory neuropathy spectrum disorder (ANSD) is a SNHL subtype with unique diagnostic criteria. The genetic factors associated with these impairments are vast a...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Guillen‐Ahlers, Hector, Erbe, Christy B., Chevalier, Frédéric D., Montoya, Maria J., Zimmerman, Kip D., Langefeld, Carl D., Olivier, Michael, Runge, Christina L.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Clinical Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6081214/
https://ncbi.nlm.nih.gov/pubmed/29671961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.397
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