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...

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Vydáno v:	Human genetics Ročník 141; číslo 3-4; s. 465 - 484
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Berlin/Heidelberg Springer Berlin Heidelberg 01.04.2022 Springer Springer Nature B.V
Témata:	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
On-line přístup:	Získat plný text
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