Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
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Target Concepts:
Gene/Protein
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Query: UMLS:C0004134 (
ataxia
)
15,886
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. 310 90
