Article
Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness.
American journal of medical genetics - 15 Dec 1994
Sharp C W, Muir W J, Blackwood D H, Walker M, Gosden C, St Clair D M
Abstract excerpt
A family is presented with multiple cases of mild mental retardation, schizophrenia and other functional psychoses, progressive hearing loss, and retinitis pigmentosa (RP). It closely resembles a previously reported Finnish family. We suggest that the phenotypes are not associated in this family by chance, but define a novel syndrome which may be caused by a mutant allele at a single genetic locus.
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