Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific...
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses
About this item
Full title
Author / Creator
Singh, Sushma , Penney, Cindy , Griffin, Anne , Woodland, Geoffrey , Werdyani, Salem , Benteau, Tammy A. , Abdelfatah, Nelly , Squires, Jessica , King, Beverly , Houston, Jim , Dyer, Matthew J. , Roslin, Nicole M. , Vincent, Daniel , Marquis, Pascale , O’Rielly, Darren D. , Hodgkinson, Kathy , Burt, Taylor , Baker, Ashley , Stanton, Susan G. and Young, Terry-Lynn
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Genotype-phenotype correlations add value to the management of families with hereditary hearing loss (HL), where age-related typical audiograms (ARTAs) are generated from cross-sectional regression equations and used to predict the audiogram phenotype across the lifespan. A seven-generation kindred with autosomal dominant sensorineural HL (ADSNHL)...
Alternative Titles
Full title
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses
Authors, Artists and Contributors
Author / Creator
Penney, Cindy
Griffin, Anne
Woodland, Geoffrey
Werdyani, Salem
Benteau, Tammy A.
Abdelfatah, Nelly
Squires, Jessica
King, Beverly
Houston, Jim
Dyer, Matthew J.
Roslin, Nicole M.
Vincent, Daniel
Marquis, Pascale
O’Rielly, Darren D.
Hodgkinson, Kathy
Burt, Taylor
Baker, Ashley
Stanton, Susan G.
Young, Terry-Lynn
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10325993
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10325993
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-023-01358-0
