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:C0020505 (
hyperphagia
)
6,116
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This is a report of
FMR1
premutation with Prader-Willi phenotype (PWP) and
FXTAS
. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation. The patient presented intranuclear inclusions, severe obesity,
hyperphagia
, and ADHD symptoms, typical of the PWP in FXS. In addition, the autopsy revealed multiple architectural cortical abnormalities.
...
PMID:
FMR1
premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome. 2846 64
