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Hearing "loss," autosomal recessive 111
- ... inner ear and in cardiac muscle, leading to hearing loss and an irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome. KCNE1 KCNQ1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... elucidated. S Afr Med J. 2020 Dec 14;111(1):57-60. doi: 10.7196/SAMJ.2020.v111i1.14561. Citation on PubMed Barat-Houari M, Baujat G, Tran Mau Them F, Fabre A, Genevieve D, Touitou I. Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: ...
- ... syndrome. LRP2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... cases, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
