Article
Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).
PloS one - 1 Jan 2015
Nash Dustin, Arrington Cammon B, Kennedy Brett J, Yandell Mark, Wu Wilfred, Zhang Wenying, Ware Stephanie, Jorde Lynn B, Gruber Peter J, Yost H Joseph, Bowles Neil E, Bleyl Steven B
Abstract excerpt
Most isolated congenital heart defects are thought to be sporadic and are often ascribed to multifactorial mechanisms with poorly understood genetics. Total Anomalous Pulmonary Venous Return (TAPVR) occurs in 1 in 15,000 live-born infants and occurs either in isolation or as part of a syndrome involving aberrant left-right development. Previously, we reported causative links between TAVPR and the PDGFRA gene....
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