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

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

17 Jun 2020

Abstract excerpt

BACKGROUND: The development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in these well-organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most common causes of syndromic cleft lip and/or palate accounting for 2% of all cases. Mutations in the IRF6 gene account for...

Read the complete abstract on PubMed

Topics

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

Share to Cleft Lip and Palate Research
Share to Congenital Ear and Nasal Anomalies
Share to Craniofacial Disorders and Treatments

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32558391
DOI: 10.1002/mgg3.1355

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndromePMID 32558391Read ↗

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

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6Semantic proximity Read ↗

Identification of IRF6 gene variants in three families 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 ↗

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.Semantic proximity Read ↗

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

Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.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 ↗

Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.Semantic proximity Read ↗

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

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

Mutations in Van Der Woude Families From Ethiopia.Semantic proximity Read ↗

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