Article
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.
Journal of medical genetics - 1 Dec 2017
Kruszka Paul, Tanpaiboon Pranoot, Neas Katherine, Crosby Kathleen, Berger Seth I, Martinez Ariel F, Addissie Yonit A, Pongprot Yupada, Sittiwangkul Rekwan, Silvilairat Suchaya, Makonkawkeyoon Krit, Yu Lan, Wynn Julia, Bennett James T, Mefford Heather C, Reynolds William T, Liu Xiaoqin, Mommersteeg Mathilda T M, Chung Wendy K, Lo Cecilia W, Muenke Maximilian
Abstract excerpt
BACKGROUND: Congenital heart disease (CHD) is a common birth defect affecting approximately 1% of newborns. Great progress has been made in elucidating the genetic aetiology of CHD with advances in genomic technology, which we leveraged in recovering a new pathway affecting heart development in humans previously known to affect heart development in an animal model. METHODS: Four hundred and sixteen individuals...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.