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: UMLS:C0264733 (
ventricular dilatation
)
2,163
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A
fumarase
-deficient patient expressed a novel phenotype of congenital cerebral
ventricular dilatation
and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated,
fumarase
-deficient patients.
...
PMID:Fumarase deficiency presenting with periventricular cysts. 1615 15
