Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration
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DOI: 10.1101/mcs.a006247
Abstract: A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.1923_1969delinsTCTGGG; p.Asn643Glyfs*29)… read more here.
Keywords: recessive rod; degeneration; cone degeneration; cause ... See more keywords