The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.

Emily ZhaoMiles BombackAtlas KhanSarath Krishna MurthyDavid SolowiejczykNeeta L VoraKelly L GilmoreJessica L GiordanoRonald J WapnerSimone Sanna-CherchiAlex LyfordAngie C JelinAli G GharaviThomas Hays

Published in: Prenatal diagnosis (2024)

GREB1L may cause complex congenital heart disease (CHD) in humans. Clinicians should consider GREB1L testing in the setting of CHD, and cardiac screening in the setting of GREB1L variants.

Keyphrases

congenital heart disease
endothelial cells
palliative care
left ventricular
copy number
induced pluripotent stem cells