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Article

Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate.

Human mutation - 1 Jul 2004

Pezzetti F, Martinelli M, Scapoli L, Carinci F, Palmieri A, Marchesini J, Carinci P, Caramelli E, Rullo R, Gombos F, Tognon M

Abstract excerpt

The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investigated 110 sporadic CL/P patients, their parents and 289 unrelated controls for c.665C>T (commonly...

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Source

Identifiers

PMID: 15221800
DOI: 10.1002/humu.9257

Genes

MTHFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate.PMID 15221800Read ↗

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