Journal article icon

Journal article

HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.

Abstract:

RATIONALE: 22q11 deletion syndrome arises from recombination between low-copy repeats on chromosome 22. Typical deletions result in hemizygosity for TBX1 associated with congenital cardiovascular disease. Deletions distal to the typically deleted region result in a similar cardiac phenotype but lack in extracardiac features of the syndrome, suggesting that a second haploinsufficient gene maps to this interval. OBJECTIVE: The transcription factor HIC2 is lost in most distal deletions, as well ...

Expand abstract
Publication status:
Published

Actions


Access Document


Authors


Expand authors...
Publisher:
Lippincott Williams and Wilkins
Journal:
Circulation research
Volume:
115
Issue:
1
Pages:
23-31
Publication date:
2014-06-05
DOI:
EISSN:
1524-4571
ISSN:
0009-7330
URN:
uuid:afa7f2dc-bf94-41db-b6ff-c06659fd44c7
Source identifiers:
463294
Local pid:
pubs:463294

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP