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  • Title: Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness.
    Author: Sharp CW, Muir WJ, Blackwood DH, Walker M, Gosden C, St Clair DM.
    Journal: Am J Med Genet; 1994 Dec 15; 54(4):354-60. PubMed ID: 7726208.
    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.
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