Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.

doi:10.1056/NEJMoa032909

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Article

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.

The New England journal of medicine - 19 Aug 2004

Zucchero Theresa M, Cooper Margaret E, Maher Brion S, Daack-Hirsch Sandra, Nepomuceno Buena, Ribeiro Lucilene, Caprau Diana, Christensen Kaare, Suzuki Yasushi, Machida Junichiro, Natsume Nagato, Yoshiura Koh-Ichiro, Vieira Alexandre R, Orioli Ieda M, Castilla Eduardo E, Moreno Lina, Arcos-Burgos Mauricio, Lidral Andrew C, Field L Leigh, Liu You-e, Ray Ajit, Goldstein Toby H, Schultz Rebecca E, Shi Min, Johnson Marla K, Kondo Shinji, Schutte Brian C, Marazita Mary L, Murray Jeffrey C

Abstract excerpt

BACKGROUND: Cleft lip or palate (or the two in combination) is a common birth defect that results from a mixture of genetic and environmental factors. We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and eval...

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PMID: 15317890
DOI: 10.1056/NEJMoa032909

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15317890-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.PMID 15317890Read ↗

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A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts.Semantic proximity Read ↗

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