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:C0024523 (
malabsorption
)
7,319
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A child is described with a previously unreported probable trisomy for a segment of the long arm of chromosome 17 responsible for some distinct clinical features. These include craniofacial and skin abnormalities, failure to thrive, partial malrotation of the gut,
malabsorption
, gastro-oesophageal reflux, neurodevelopmental delay, autonomic disturbance, and cardiac and CNS abnormalities. The coexistence of
Klinefelter's syndrome
(47,XXY) is of minor significance in relation to this child's phenotype.
...
PMID:Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome. 832 Jul 13
