Article
Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease.
PloS one - 1 Jan 2011
Bedard James E J, Haaning Allison M, Ware Stephanie M
Abstract excerpt
Patients with heterotaxy have characteristic cardiovascular malformations, abnormal arrangement of their visceral organs, and midline patterning defects that result from abnormal left-right patterning during embryogenesis. Loss of function of the transcription factor ZIC3 causes X-linked heterotaxy and isolated congenital heart malformations and represents one of the few known monogenic causes of congenital heart...
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