| Literature DB >> 3104590 |
M A Patton, M Baraitser, A H Heagerty, R A Eady.
Abstract
A 4 year old boy is reported with tyrosinase positive hypopigmentation, mental retardation, ataxia, and myopia. Radiological investigation showed occipital cerebral atrophy, coxa valga, and generalised osteoporosis. The skin histology and electron microscopy are reported and discussed. The clinical features are similar to those of the oculocerebral hypopigmentation syndrome described by Preus et al.Entities:
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Year: 1987 PMID： 3104590 PMCID： PMC1049905 DOI： 10.1136/jmg.24.2.118
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318