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Phenotypic Characterization of DFNA24 : Prelingual Progressive Sensorineural Hearing Impairment

This article describes the hearing impairment (HI) phenotype which segregates in a large multi-generation Swiss-German family with autosomal dominant nonsyndromic HI. The locus segregating within this pedigree is located on chromosome 4q35-qter and is designated as DFNA24. For this pedigree, audiome...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Santos, Regie Lyn P., Häfner, Franziska M., Huygen, Patrick L.M., Linder, Thomas E., Schinzel, Albert A., Spillmann, Thomas, Leal, Suzanne M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2006
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2923580/
https://ncbi.nlm.nih.gov/pubmed/16717440
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000093525
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