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Article

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.

American journal of medical genetics. Part A - 1 Mar 2015

Leslie Elizabeth J, O'Sullivan James, Cunningham Michael L, Singh Ankur, Goudy Steven L, Ababneh Faroug, Alsubaie Lamia, Ch'ng Gaik-Siew, van der Laar Ingrid M B H, Hoogeboom A Jeannette M, Dunnwald Martine, Kapoor Seema, Jiramongkolchai Pawina, Standley Jennifer, Manak J Robert, Murray Jeffrey C, Dixon Michael J

Abstract excerpt

The popliteal pterygia syndromes are a distinct subset of the hundreds of Mendelian orofacial clefting syndromes. Popliteal pterygia syndromes have considerable variability in severity and in the associated phenotypic features but are all characterized by cutaneous webbing across one or more major joints, cleft lip and/or palate, syndactyly, and genital malformations. Heterozygous mutations in IRF6 cause...

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Source

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Identifiers

PMID: 25691407
DOI: 10.1002/ajmg.a.36896
PMCID: PMC4423539

Genes

RIPK4
CHUK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.PMID 25691407Read ↗

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.Semantic proximity Read ↗

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

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.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 ↗

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.Semantic proximity Read ↗

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A novel RIPK4–IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromesSemantic proximity Read ↗

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