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:C0026827 (
hypotonia
)
5,860
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
In a newborn with multiple malformations, deletion 4q32.1 leads to 4qter was observed after BrdU incorporation and staining with
acridine
orange. The patient's phenotype and that of five children monosomic for 4qter reported in the literature define a syndrome with a high rate of mortality due to major respiratory difficulties, laryngeal
hypotonia
and oedema, and complex congenital heart malformations.
...
PMID:[De novo monosomy 4q32.1 leads to 4qter in a newborn with multiple malformations (author's transl)]. 31 83
