Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:1.10.3.1 (
tyrosinase
)
9,065
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
