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:C0036690 (
sepsis
)
59,461
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
In this article, we report a case of complex congenital heart disease in a female infant with maternal diabetes who eventually died of
sepsis
and post-surgical complications. The autopsy phenotypic findings and organ malformations are detailed. Genomic studies identified a 162 kb intragenic deletion of
A2BP1
gene within chromosome band 16p13.2. To our knowledge, this is the first description of
A2BP1
gene deletion in association with congenital heart anomalies. This case also demonstrates the effect of maternal diabetes on gene transcription and emphasizes the importance of scanning the human genome in neonates born with congenital anomalies.
...
PMID:Complex congenital heart defects in association with maternal diabetes and partial deletion of the A2BP1 gene. 2135 81
