• 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