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Autosomal recessive nonsyndromic hearing loss 48
- ... pattern. About half of all severe-to-profound autosomal recessive nonsyndromic hearing loss results from mutations in the GJB2 gene; these ... for hearing.The most common cause of moderate autosomal recessive nonsyndromic hearing loss is mutations in the STRC gene. These mutations ...
- ... Friedman TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal ... features of hearing loss patients with CDH23 mutations: a large cohort study. ...
- ... ODDD). Eur J Med Genet. 2005 Oct-Dec;48(4):377-87. doi: ... recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS ...