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Article

Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects.

American journal of medical genetics - 15 Apr 2001

Shashi V, Rickheim A, Pettenati M J

Abstract excerpt

A common mutation, C677T, in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene leads to altered homocysteine metabolism, and has been associated with the occurrence of neural tube defects (NTD). Administration of folic acid decreases this risk. There is also evidence that periconceptional supplementation of mothers with folic acid can decrease the risk of limb defects in the offspring. Here we describe a...

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Source

Identifiers

PMID: 11337744
DOI: 10.1002/ajmg.1186

Genes

MTHFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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