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Non-syndromic autosomal-dominant deafness.
Clin Genet. 2002 Jul;62(1):1-13. doi: 10.1034/j.1399-0004.2002.620101.x.
Clin Genet. 2002.
PMID: 12123480
Review.
The complexity is underlined by the fact that several of the genes are involved in both dominant and recessive non-syndromic deafness or in both non-syndromic and syndromic deafness. Mutations in eight of the genes have so far been detected in only single dominant deafness …
The complexity is underlined by the fact that several of the genes are involved in both dominant and recessive non-syndromic deafness …
Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.
Yu S, Chen WX, Zhang YF, Chen C, Ni Y, Duan B, Wang H, Xu ZM.
Yu S, et al.
Int J Pediatr Otorhinolaryngol. 2021 Jun;145:110715. doi: 10.1016/j.ijporl.2021.110715. Epub 2021 Apr 20.
Int J Pediatr Otorhinolaryngol. 2021.
PMID: 33892339
Review.
BACKGROUND: Biallelic mutations in LOXHD1 have been identified as the cause of DFNB77 (deafness, autosomal recessive 77). It is a new progressive, severe-to-profound, and late-onset nonsyndromic sensorineural hearing loss (NSHL), and is highly h …
BACKGROUND: Biallelic mutations in LOXHD1 have been identified as the cause of DFNB77 (deafness, autosomal recessive 77). It i …
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Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ, Yao J, Wei QJ, Xing GQ, Cao X.
Lu YJ, et al.
Medicine (Baltimore). 2015 Dec;94(50):e2248. doi: 10.1097/MD.0000000000002248.
Medicine (Baltimore). 2015.
PMID: 26683941
Free PMC article.
Review.
Many SLC26A4 mutations have been identified in patients with nonsyndromic enlarged vestibular aqueduct (EVA). However, the roles of SLC26A4 genotypes and phenotypes in hereditary deafness remain unexplained. This study aims to perform a meta-analysis based on the PRISMA st …
Many SLC26A4 mutations have been identified in patients with nonsyndromic enlarged vestibular aqueduct (EVA). However, the roles of S …
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