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  1. Article

    Open Access

    The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

    Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A...

    Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm… in BMC Medical Genetics (2018)

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