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:C0917816 (
mental retardation
)
15,867
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 10-year-old boy, issue of unrelated parents presented with visual impairment, short stature and
mental retardation
. The presence of a Peters' anomaly,
mental retardation
, disproportionate short stature, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome. Analysis of his genomic DNA revealed a homozygous deletion in the
beta1,3-galactosyltransferase
-like gene (B3GALTL), a recently identified gene.
...
PMID:Peters plus syndrome. 1875 95
