E-viri
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Sharp, C W; Muir, W J; Blackwood, D H; Walker, M; Gosden, C; St Clair, D M
American journal of medical genetics, 15 December 1994, Letnik: 54, Številka: 4Journal Article
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.
