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 familial case of popliteal pterygium syndrome.

Minerva stomatologica - 1 Jun 2008

Bertelè G, Mercanti M, Gangini G N, Carletti V

Abstract excerpt

Popliteal pterygium syndrome (PPS) is a rare malformation disorder characterized by autosomal dominant inheritance, highly variable expressivity and incomplete penetrance. The disorder is caused by the mutation of the IRF6 gene and the respective protein, which belongs to a family of nine transcr...

Read the complete abstract on PubMed

Topics

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

Share to Toes
Share to Abnormalities, Multiple
Share to Cleft Palate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Infant, Newborn

Share to Interferon Regulatory Factors

Share to Syndactyly

Share to Syndrome

Source

Identifiers

PMID: 18617879

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18617879-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A familial case of popliteal pterygium syndrome.PMID 18617879Read ↗

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.Semantic proximity Read ↗

Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.Semantic proximity Read ↗

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.Semantic proximity Read ↗

Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.Semantic proximity Read ↗

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium 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 ↗

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.Semantic proximity Read ↗

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.Semantic proximity Read ↗

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

Popliteal pterygium syndrome.Semantic proximity Read ↗

Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32Semantic proximity Read ↗

Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants.Semantic proximity Read ↗

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