SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct
Author:
Funder
National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-019-0853-4.pdf
Reference20 articles.
1. Valvassori GE, Clemis JD. Abnormal vestibular aqueduct in cochleovestibular disorders. Adv Otorhinolaryngol. 1978;24:100–5.
2. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet. 1999;104(2):188–92.
3. Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997;17(4):411–22.
4. Morgans ME, Trotter WR. Association of congenital deafness with goitre; the nature of the thyroid defect. Lancet. 1958;1(7021):607–9.
5. Li XC, Everett LA, Lalwani AK, et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet. 1998;18(3):215–7.
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1. The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation;Genes;2023-01-28
2. Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation;Otology & Neurotology;2022-03-08
3. Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review;Audiology Research;2021-08-28
4. Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant;Human Genetics;2021-08-19
5. Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss;Human Genetics;2021-08-03
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