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...
المؤلفون الرئيسيون: | Dykes, I, van Bueren, K, Ashmore, R, Floss, T, Wurst, W, Szumska, D, Bhattacharya, S, Scambler, P |
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التنسيق: | Journal article |
اللغة: | English |
منشور في: |
Lippincott Williams and Wilkins
2014
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مواد مشابهة
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HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region
حسب: Dykes, IM, وآخرون
منشور في: (2014) -
Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.
حسب: van Bueren, K, وآخرون
منشور في: (2010) -
The 22q11.2 Deletion Syndrome: A Gene Dosage Perspective
حسب: Antonio Baldini
منشور في: (2006-01-01) -
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
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Hearing loss in a mouse model of 22q11.2 Deletion Syndrome.
حسب: Jennifer C Fuchs, وآخرون
منشور في: (2013-01-01)