Journal Articles

Publication Date



Cold Spring Harbor Molecular Case Studies


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) in the


Humans, Retinal Degeneration, Frameshift Mutation, Night Blindness, Blindness, INDEL Mutation, Pedigree, Mutation, Cyclic Nucleotide Phosphodiesterases, Type 6



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