Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of IRF6 gene variants in three families with Van der Woude syndrome.

International journal of molecular medicine - 1 Jun 2008

Tan Ene-Choo, Lim Eileen Chew-Ping, Yap Shiao-Hui, Lee Seng-Teik, Cheng Joanne, Por Yong-Chen, Yeow Vincent

Abstract excerpt

Van der Woude syndrome is the most common cause of syndromic orofacial clefting. It is characterised by the presence of lip pits, cleft lip and/or cleft palate. It is transmitted in an autosomal dominant manner, with high penetrance and variable expressivity. Several mutations in the interferon regulatory factor 6 (IRF6) gene have been found in VWS families, suggesting that this gene is the primary locus. We...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cleft Palate
Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cleft Lip

Share to Family Health

Share to Genes, Dominant

Share to Interferon Regulatory Factors

Share to Penetrance

Source

Identifiers

PMID: 18506368

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of IRF6 gene variants in three families with Van der Woude syndrome.PMID 18506368Read ↗

Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.Semantic proximity Read ↗

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

A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family 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 ↗

Novel IRF6 mutations in Chinese patients with Van der Woude syndrome.Semantic proximity Read ↗

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

Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome.Semantic proximity Read ↗

Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family.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 ↗

Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome.Semantic proximity Read ↗

Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.