Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B
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DOI: 10.1002/humu.24094
Abstract: More than two decades ago, a recessive syndromic phenotype affecting kidneys, eyes, and ears, was first described in the endogamous Afrikaner population of South Africa. Using whole‐exome sequencing of DNA from two affected siblings (and… read more here.
Keywords: hearing loss; cone dystrophy; mutation rrm2b; rod cone ... See more keywords