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Genetics of hearing and deafness.
Angeli S, Lin X, Liu XZ. Angeli S, et al. Anat Rec (Hoboken). 2012 Nov;295(11):1812-29. doi: 10.1002/ar.22579. Epub 2012 Oct 8. Anat Rec (Hoboken). 2012. PMID: 23044516 Free PMC article. Review.
Most of the cases of genetic deafness recognized today are monogenic disorders that can be broadly classified by the mode of inheritance (i.e., autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance) and by the presence of associated …
Most of the cases of genetic deafness recognized today are monogenic disorders that can be broadly classified by the mode of inheritance (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. ...A total of 272 SLC26A4 variations were found in deafness with …
Many SLC26A4 mutations have been identified in patients with nonsyndromic enlarged vestibular aqueduct (EVA). However, the roles of S …