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

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

Pediatric dermatology - 1 Jan 2000

Miñones-Suárez Lorena, Mas-Vidal Alberto, Fernandez-Toral Joaquin, Llano-Rivas Isabel, González-García Manuel

Abstract excerpt

This report describes a novel missense mutation in the interferon regulation factor 6 (IRF6) gene associated to facial asymmetry. This new feature widens the phenotype spectrum of Van der Woude syndrome (VWS).

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Cleft Lip
Share to Cleft Palate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Interferon Regulatory Factors

Source

Identifiers

PMID: 21995291
DOI: 10.1111/j.1525-1470.2011.01575.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.PMID 21995291Read ↗

Two novel mutations affecting splicing in the IRF6 gene associated 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 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 ↗

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

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

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

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.Semantic proximity Read ↗

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

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

Identification of IRF6 gene variants in three families 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 ↗

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