Disease: Polysyndactyly orofacial anomalies
- <em>IRF6</em>-Related Disorders
- <em>TP63</em>-Related Disorders
- 19q13.32 microdeletion syndrome: three new cases
- A case of vander woude syndrome with rare phenotypic expressions
- A Complex Intrachromosomal Rearrangement Disrupting <em>IRF6</em> in a Family with Popliteal Pterygium and Van der Woude Syndromes
- A familial case of popliteal pterygium syndrome
- A newborn with overlapping features of AEC and EEC syndromes
- A rare case of popliteal pterygium syndrome
- A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
- An extremely rare case of Oro-facial digital syndrome: A case report
- Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts
- Apert syndrome: a case report with discussion of craniofacial features
- Bartsocas-Papas syndrome with variable expressivity in an Egyptian family
- Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
- Case report: hypodontia and short roots in a child with Fraser syndrome
- Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report
- Clinical orofacial symptoms--guide to diagnosis of syndromes
- Comprehensive prosthetic rehabilitation of a case of the orofacial digital syndrome
- Craniofacial and Neurological Phenotype in a Case of Oculodentodigital Syndrome
- Ectodermal dysplasias: the p63 tail
- Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders
- Fetal alcohol syndrome--case report
- Fraser Syndrome
- Fraser Syndrome - a Case Report and Review of Literature
- Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
- Fraser syndrome with partial anomalous pulmonary venous connection
- Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate
- Haploinsufficiency of <em>BMP4</em> and <em>OTX2</em> in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy
- Hypertelorism: interorbital growth, measurements, and pathogenetic considerations
- Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome)
- Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia
- Intrafamilial variability in Fraser syndrome
- IRF6 and AP2A Interaction Regulates Epidermal Development
- Maldevelopment of the submandibular gland in a mouse model of apert syndrome
- Möbius sequence: further in vivo support for the subclavian artery supply disruption sequence
- Moebius sequence -a multidisciplinary clinical approach
- Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
- Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting
- Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms
- Observations on a case of acrocephalo-syndactyly with special reference to the oro-facial picture
- Oral and Craniofacial Anomalies of Fraser Syndrome:Prosthetic Management
- Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases
- Orocfacial digital syndrome type II -- Mohr's syndrome
- Osteopathia Striata with Cranial Sclerosis
- Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)
- Poland-Möbius syndrome: a case report
- Poland-Moebius syndrome: a case with oral anomalies
- Popliteal pterygium syndrome: orofacial and general features
- Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia
- Risk of congenital anomalies in children who have a sibling with cancer: A matched cohort study
- Robinow syndrome, Cockayne syndrome, and Pfeiffer syndrome: an overview of physical, neurological, and oral characteristics
- Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes
- Syndrome identification case report 91: orofacial defects and polysyndactyly
- The ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of five cases
- The incidence of cleft lip and palate in Addis Ababa, Ethiopia
- The power of zebrafish models for understanding the co-occurrence of craniofacial and limb disorders
- The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function
- TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys
- Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China
- Twenty-four cases of the EEC syndrome: clinical presentation and management
- Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy
- Upper extremity deformities associated with the orofacial clefts
- Van der Woude and Popliteal Pterygium Syndromes
- Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report