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:C0019270 (
hernia
)
15,856
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The authors report on a child with Setleis syndrome (OMIM 227260). She is born to a consanguineous couple with bitemporal scar like defects resembling forceps marks. She had other classical features resembling autosomal recessive Setleis syndrome. The authors identified a novel homozygous deletion of a single nucleotide (c.91delC) in
TWIST2
gene leading to the premature truncation of protein (p.R31GfsX71). Umbilical
hernia
and genital anomalies are being reported for the first time with this condition. This is the fourth mutation proven family of Setleis syndrome.
...
PMID:A novel frameshift mutation in TWIST2 gene causing Setleis syndrome. 2412 7
