Disease: Popliteal pterygium syndrome
- A case of vander woude syndrome with rare phenotypic expressions
- A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts
- A Complex Intrachromosomal Rearrangement Disrupting <em>IRF6</em> in a Family with Popliteal Pterygium and Van der Woude Syndromes
- A comprehensive review of the genetic basis of cleft lip and palate
- A familial case of popliteal pterygium syndrome
- A Japanese family with popliteal pterygium syndrome
- A new surgical approach to treatment of bilateral syngnathia in a patient with popliteal pterygium-syndrome
- A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
- A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia
- A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes
- A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child
- Anatomic Severity, Midfacial Growth, and Speech Outcomes in Van der Woude/Popliteal Pterygium Syndromes Compared to Nonsyndromic Cleft Lip/Palate
- Anesthesic management for escobar syndrome: case report
- Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate
- Bartsocas-Papas syndrome with variable expressivity in an Egyptian family
- Bartsocas-Papas Syndrome: A Case Report and Review of the Literature
- Bartsocas-Papas syndrome: The first case report of severe autosomal recessive form from Indonesia
- Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report
- Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases
- Comparative analysis of surgical treatment modalities for a popliteal pterygium: a meta-analysis
- Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome
- Congenital Maxillomandibular Synechia with Multiple Malformations in a Very-Low-Birth-Weight Infant: A Case Report
- Congenital maxillomandibular syngnathia: case report
- Congenital unilateral maxillo-mandibulo-zygomatic fusion (syngnathia): a case report in an 8-year-old boy
- Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions
- Escobar (multiple pterygium) syndrome: Multidisciplinary approach to a very rare syndrome
- Escobar syndrome (multiple pterygium syndrome) associated with thoracic kyphoscoliosis, lordoscoliosis, and severe restrictive lung disease: a case report
- Escobar syndrome mimicing congenital patellar syndrome
- Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome
- Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus
- Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders
- FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous system anomalies
- Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect
- Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature
- Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes
- Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse
- Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence
- Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis
- Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome
- Interferon Regulatory Factor 6 Is Necessary for Salivary Glands and Pancreas Development
- IRF6 and AP2A Interaction Regulates Epidermal Development
- IRF6 and SPRY4 Signaling Interact in Periderm Development
- IRF6 expression in basal epithelium partially rescues Irf6 knockout mice
- Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch
- Is webbing (pterygia) a constant feature in patients with Escobar syndrome?
- Keratinocyte-Specific Ablation of RIPK4 Allows Epidermal Cornification but Impairs Skin Barrier Formation
- Management of knee deformities in children with arthrogryposis
- Management of severe congenital flexion deformity of the knee using Ilizarov method
- Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome
- Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6
- Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome
- Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome
- Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome
- Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
- Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa
- Novel IRF6 variant in orofacial cleft patients from Durban, South Africa
- Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting
- Orthopedic Surgical Management of Complicated Congenital Popliteal Pterygium Syndrome: A Case Report
- Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis
- Periderm prevents pathological epithelial adhesions during embryogenesis
- Periderm: Life-cycle and function during orofacial and epidermal development
- Popliteal pterygium knee contracture: treatment with the Ilizarov technique
- Popliteal Pterygium syndrome
- Popliteal pterygium syndrome
- Popliteal pterygium syndrome (PPS) with intra-alveolar syngnathia: a discussion of anesthetic and surgical considerations
- Popliteal pterygium syndrome and surgical approach in a preterm neonate
- Popliteal Pterygium Syndrome With Syngnathia
- Popliteal Pterygium Syndrome--a case report
- Popliteal pterygium syndrome: a rare entity
- Popliteal pterygium syndrome: A rare syndrome
- Popliteal pterygium syndrome: orofacial and general features
- Popliteal Pterygium With Van Der Woude Syndrome
- Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia
- Prenatal diagnosis of congenital syngnathia by 3D ultrasound and pathological correlation
- Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome
- Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
- Pterygium Syndrome
- Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation
- Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing
- Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes
- Secondary nerve lengthening to obtain full knee extension in popliteal pterygium syndrome
- Shared molecular networks in orofacial and neural tube development
- Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability
- Smad4-Irf6 genetic interaction and TGFβ-mediated IRF6 signaling cascade are crucial for palatal fusion in mice
- Spectrum of features in pterygium syndrome
- Submucosal dissection to close wide cleft palate with folded mucoperiosteum for bilateral cleft lip and palate with popliteal pterygium syndrome
- Surgical Correction of Popliteal Pterygium with Serial Splinting: A Case Report and Review of Literature
- Symptomatic Accessory Medial Meniscus Associated With Popliteal Pterygium Syndrome
- Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome
- The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility
- The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function
- The role of RIPK4 in epidermis physiology
- The Shikani Optical Stylet: a useful adjunct to airway management in a neonate with popliteal pterygium syndrome
- Toward an orofacial gene regulatory network
- Treatment of knee flexion contractures in patients with arthrogryposis
- Treatment of popliteal pterygium using an Ilizarov external fixator
- Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome
- Van der Woude and Popliteal Pterygium Syndromes
- Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6
- Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling