Publication: Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment
Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment
Date
Date
Date
Citations
Santos, R. L. P., Häfner, F. M., Huygen, P. L. M., Linder, T. E., Schinzel, A., Spillmann, T., & Leal, S. M. (2006). Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. Audiology and Neurotology, 11(5), 269–275. https://doi.org/10.1159/000093525
Abstract
Abstract
Abstract
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, audiometric data on 25 hearing-impaired family members are available. It was demonstrated that within this kindred the HI is sensorineural, bilateral, prelingual in onset, and progressive throughout life. Age-related typical audiograms depict stee
Metrics
Downloads
Views
Additional indexing
Creators (Authors)
- Santos, Regie Lyn P
- Häfner, Franziska M
- Huygen, Patrick L M
- Linder, Thomas E
- Spillmann, Thomas
- Leal, Suzanne M
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
In collections
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Metrics
Downloads
Views
Citations
Santos, R. L. P., Häfner, F. M., Huygen, P. L. M., Linder, T. E., Schinzel, A., Spillmann, T., & Leal, S. M. (2006). Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. Audiology and Neurotology, 11(5), 269–275. https://doi.org/10.1159/000093525
