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Article

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

European journal of pediatrics - 1 Feb 2010

Ferrero Giovanni Battista, Baldassarre Giuseppina, Panza Emanuele, Valenzise Mariella, Pippucci Tommaso, Mussa Alessandro, Pepe Ernesto, Seri Marco, Silengo Margherita Cirillo

Abstract excerpt

BACKGROUND: Orofacial clefts are common congenital malformations usually characterized by a multifactorial etiology. These heterogeneous defects comprise cleft lip (CL), CL with cleft palate (CL/P), and cleft palate, sometimes observed in recognizable syndromes, with mendelian, chromosomal, or environmental pathogenesis. The Van der Woude syndrome is a mendelian CL/P, accounting for about 2% of all cases and...

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Identifiers

PMID: 19536562
DOI: 10.1007/s00431-009-1011-3

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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.

Related research

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A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.PMID 19536562Read ↗

A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.Semantic proximity Read ↗

Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndromeSemantic proximity Read ↗

Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome.Semantic proximity Read ↗

Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome.Semantic proximity Read ↗

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

A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.Semantic proximity Read ↗

Novel mutations in the IRF6 gene for Van der Woude syndrome.Semantic proximity Read ↗

The complex genetics of cleft lip and palate.Semantic proximity Read ↗

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.Semantic proximity Read ↗

A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family.Semantic proximity Read ↗

Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.Semantic proximity Read ↗

Identification of IRF6 gene variants in three families with Van der Woude syndrome.Semantic proximity Read ↗

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