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Article

Dual mutation (MTHFR A1298C with PAI (4G) mutation) manifesting with bilateral lower limb gangrene in a neonate.

BMJ case reports - 18 Jan 2021

Kumar Ashutosh, Ramachandran Sateesh, Swain Pranati, Negi Vandana

Abstract excerpt

Neonates are at highest risk of thrombosis among paediatric patients. The relative prothrombotic state in a well neonate is compensated by other factors preventing spontaneous thrombosis; however, in a neonate with genetic predisposition, the balance is tilted predisposing them to a life-threatening thrombotic episode. We describe a rare case of methylenetetrahydrofolate reductase A1298C (homozygous) mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33462011
DOI: 10.1136/bcr-2020-237340
PMCID: PMC7816929

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