Cw. Sharp et al., SCHIZOPHRENIA AND MENTAL-RETARDATION ASSOCIATED IN A PEDIGREE WITH RETINITIS-PIGMENTOSA AND SENSORINEURAL DEAFNESS, American journal of medical genetics, 54(4), 1994, pp. 354-360
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 rep
orted Finnish family. We suggest that the phenotypes are not associate
d in this family by chance, but define a novel syndrome which may be c
aused by a mutant allele at a single genetic locus. (C) 1994 Wiley-Lis
s, Inc.