Article
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
Genome medicine - 28 Aug 2020
Izarzugaza Jose M G, Ellesøe Sabrina G, Doganli Canan, Ehlers Natasja Spring, Dalgaard Marlene D, Audain Enrique, Dombrowsky Gregor, Banasik Karina, Sifrim Alejandro, Wilsdon Anna, Thienpont Bernard, Breckpot Jeroen, Gewillig Marc, Brook J David, Hitz Marc-Phillip, Larsen Lars A, Brunak Søren
Abstract excerpt
BACKGROUND: Congenital heart disease (CHD) occurs in almost 1% of newborn children and is considered a multifactorial disorder. CHD may segregate in families due to significant contribution of genetic factors in the disease etiology. The aim of the study was to identify pathophysiological mechanisms in families segregating CHD. METHODS: We used whole exome sequencing to identify rare genetic variants in ninety...
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