Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct (EVA). SLC26A4 is the second most frequently mutated gene in arHL. Despite the strong genotype–phenotype correlation, a significant part of case...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human genetics Jg. 141; H. 3-4; S. 465 - 484
Hauptverfasser:	Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	Berlin/Heidelberg Springer Berlin Heidelberg 01.04.2022 Springer Springer Nature B.V
Schlagworte:	Biomedical and Life Sciences Biomedicine Deafness DNA sequencing Epigenetic inheritance Epigenetics Ethylenediaminetetraacetic acid Gene Function Gene mapping Gene mutations Genetic aspects Genomes Genomics Genotypes Haplotypes Health aspects Hearing loss Hearing Loss - genetics Hearing Loss, Sensorineural - genetics Heritability Human Genetics Humans Investigations Membrane Transport Proteins - genetics Metabolic Diseases Molecular Medicine Mutation Nucleotide sequencing Original Investigation Phenotype Phenotypes RNA Sulfate Transporters - genetics The Molecular Genetics of Hearing and Deafness Vestibular Aqueduct - abnormalities Vestibular system Whole genome sequencing
ISSN:	0340-6717, 1432-1203, 1432-1203
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!