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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Dykes, I, van Bueren, K, Ashmore, R, Floss, T, Wurst, W, Szumska, D, Bhattacharya, S, Scambler, P
Формат: Journal article
Хэл сонгох:English
Хэвлэсэн: Lippincott Williams and Wilkins 2014