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:C0042961 (
volvulus
)
4,305
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of
JAG1
and
NOTCH2
genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with
volvulus
.
...
PMID:Novel Heterozygous Mutations in
JAG1
and
NOTCH2
Genes in a Neonatal Patient with Alagille Syndrome. 2846 53
