Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension.

Yline CapriTheresa KwonOlivia BoyerLucas BourmanceNoe TestaVéronique BaudouinRonan BonnefoyAnne CoudercChakib MezianeElisabeth Tournier-LasserveLaurence HeidetJudith Melki

Published in: Journal of medical genetics (2023)

gene analysis should be therefore investigated in infants with early-onset systemic hypertension with or without cardiogenic shock of unknown origin.

Keyphrases

early onset
blood pressure
late onset
copy number
genome wide
intellectual disability
gene expression
high resolution
atomic force microscopy
arterial hypertension
transcription factor