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Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness
C W Sharp1, W J Muir, D H Blackwood
1University Department of Psychiatry, Royal Edinburgh Hospital, United Kingdom.
American Journal of Medical Genetics
|December 15, 1994
Abstract:
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.