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Article

Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip.

American journal of medical genetics - 16 Nov 1998

Shaw G M, Rozen R, Finnell R H, Todoroff K, Lammer E J

Abstract excerpt

Studies have reported an association between homozygosity for a variant form of the methylenetetrahydrofolate reductase (MTHFR) gene and risk for neural tube defects. Because of MTHFR's involvement with folate metabolism and evidence that maternal use of a multivitamin with folic acid in early pregnancy reduces risk for cleft lip with or without cleft palate (CLP), we hypothesized that infants homozygous for the...

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Source

Identifiers

PMID: 9843036
DOI: 10.1002/(sici)1096-8628(19981116)80:3<196::aid-ajmg2>3.0.co;2-v

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip.PMID 9843036Read ↗

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Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts.Semantic proximity Read ↗

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