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:C0018799 (
heart disease
)
34,133
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital
heart disease
, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-
uridyltransferase
(GALT). Comparing the clinical features of our case with those of previously reported patients, tetrasomy 9p appears to be a distinctive and clinically recognisable malformation syndrome.
...
PMID:Tetrasomy 9p confirmed by GALT. 664 73
