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...
Главные авторы: | Dykes, I, van Bueren, K, Ashmore, R, Floss, T, Wurst, W, Szumska, D, Bhattacharya, S, Scambler, P |
---|---|
Формат: | Journal article |
Язык: | English |
Опубликовано: |
Lippincott Williams and Wilkins
2014
|
Схожие документы
-
HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region
по: Dykes, IM, и др.
Опубликовано: (2014) -
Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.
по: van Bueren, K, и др.
Опубликовано: (2010) -
The 22q11.2 Deletion Syndrome: A Gene Dosage Perspective
по: Antonio Baldini
Опубликовано: (2006-01-01) -
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
по: Fernández Luis, и др.
Опубликовано: (2009-06-01) -
Hearing loss in a mouse model of 22q11.2 Deletion Syndrome.
по: Jennifer C Fuchs, и др.
Опубликовано: (2013-01-01)