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Non-syndromic autosomal-dominant deafness.
Petersen MB. Petersen MB. Clin Genet. 2002 Jul;62(1):1-13. doi: 10.1034/j.1399-0004.2002.620101.x. Clin Genet. 2002. PMID: 12123480 Review.
More than 70 loci have been mapped, and 25 of the nuclear genes responsible for non-syndromic deafness have been identified. Autosomal-dominant genes are responsible for about 20% of the cases of hereditary non-syndromic deafness, with 16 different genes identified to date …
More than 70 loci have been mapped, and 25 of the nuclear genes responsible for non-syndromic deafness have been identified. Autosomal
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 …
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 …