Article
Duplication of HEY2 in cardiac and neurologic development.
American journal of medical genetics. Part A - 1 Sept 2015
Jordan Valerie K, Rosenfeld Jill A, Lalani Seema R, Scott Daryl A
Abstract excerpt
HEY2 is a basic helix-loop-helix (bHLH) transcription factor that plays an important role in the developing mammalian heart and brain. In humans, nonsynonymous mutations in HEY2 have been described in patients with atrial ventricular septal defects, and a subset of individuals with chromosomal deletions involving HEY2 have cardiac defects and cognitive impairment. Less is known about the potential effects of HEY2...
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