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...
Автори: | Dykes, I, van Bueren, K, Ashmore, R, Floss, T, Wurst, W, Szumska, D, Bhattacharya, S, Scambler, P |
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Формат: | Journal article |
Мова: | English |
Опубліковано: |
Lippincott Williams and Wilkins
2014
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