HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.
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...
| Hlavní autoři: | , , , , , , , |
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| Médium: | Journal article |
| Jazyk: | English |
| Vydáno: |
Lippincott Williams and Wilkins
2014
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