RETRACTED: Congenital heart defects and hypothyroidism in Down syndrome patients with common MTHFR polymorphisms
Mahak Garg,
Ajay Patial,
Harmanpreet Singh Kapoor
et al.
Abstract:MTHFR is an essential enzyme in the folate pathway. Down syndrome (DS), which affects 1 in 700 live births, is common chromosomal aneuploidy with documented dysregulation in cellular folate pathway. Homocysteine accumulation is caused by dysregulation in MTHFR activity and hyperhomocysteinemia is a stand-alone risk factor for a number of vascular diseases. There is an association between the MTHFR polymorphisms C677T and A1298C with stroke, thromboembolism, and hypothyroidism. Patients with Down syndrome frequ… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.