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Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.
Acharya A, Schrauwen I, Leal SM. Acharya A, et al. Hum Genet. 2022 Apr;141(3-4):413-430. doi: 10.1007/s00439-021-02309-9. Epub 2021 Jul 22. Hum Genet. 2022. PMID: 34291353 Free PMC article. Review.
Hearing impairment (HI) is one of the most common sensory disabilities with exceptionally high genetic heterogeneity. Of genetic HI cases, 30% are syndromic and 70% are nonsyndromic. For nonsyndromic (NS) HI, 77% of the cases are due to autosomal …
Hearing impairment (HI) is one of the most common sensory disabilities with exceptionally high genetic heterogeneity. Of genetic HI c …
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C. Zeviani M, et al. Medicine (Baltimore). 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. Medicine (Baltimore). 1998. PMID: 9465864 Free article. Review.
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessive syndromes associated with multiple deletions or tissue-specific depletion of mtDNA. ...They range from lesions of single tissues or s …
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessi …