Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension.
Journal of medical genetics(2023)
摘要
We show for the first time that biallelic loss of function of is responsible for isolated neonatal-onset systemic hypertension in humans, which represents a new autosomal recessive genetic cause of infantile systemic hypertension or cardiogenic shock. This is consistent with studies reporting early-onset systemic hypertension and sudden death in Npr1-deficient mice. gene analysis should be therefore investigated in infants with early-onset systemic hypertension with or without cardiogenic shock of unknown origin.
更多查看译文
关键词
Cardiovascular Diseases,Genomics,Human Genetics,Pediatrics
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要