Disease: Congenital contractural arachnodactyly
- A 36-Year-Old Female With Congenital Contractural Arachnodactyly and Pectus Excavatum Requiring Fourth-Time Redo Surgical Correction
- A clinical scoring system for congenital contractural arachnodactyly
- A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes
- A novel <em>FBN2</em> mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family
- A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family
- A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly
- A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly
- A novel fibrotic disorder associated with increased dermal fibroblast proliferation and downregulation of genes of the microfibrillar network
- A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly
- A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis
- A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly
- A novel splicing acceptor variant of the FBN2 gene contributes to a case of congenital contractural arachnodactyly
- A Novel Splicing Mutation in the <em>FBN2</em> Gene in a Family With Congenital Contractural Arachnodactyly
- A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly
- A patient with pleuroparenchymal fibroelastosis carrying a novel <em>fibrillin-2</em> gene variant
- A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
- Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice
- Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management
- Arachnodactyly represented in art
- Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome?
- Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome
- Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis
- Beals syndrome with middle and inner ear dysplasia and encephalocele: A case report and review of imaging findings
- Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report
- Bilateral Congenital Vertical Talus in Association with Beals Contractural Arachnodactyly: A Case Report
- Bone and soft connective tissue alterations result from loss of fibrillin-2 expression
- Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family
- Case report: Identification of novel <em>fibrillin-2</em> variants impacting disulfide bond and causing congenital contractural arachnodactyly
- Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly
- Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dube Syndrome and Congenital Contractural Arachnodactyly
- Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases
- Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
- Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder
- Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature
- Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
- Congenital contractural arachnodactyly suspected by abnormally long extremities by fetal ultrasound
- Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy
- Congenital hydrocephalus in clinical practice: a genetic diagnostic approach
- Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
- Deep multiview learning to identify imaging-driven subtypes in mild cognitive impairment
- Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders
- Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect
- Discrepancies in clavicle-to-carotid bifurcation length measurements for transcarotid artery revascularization using different imaging modalities
- Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes
- ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2
- Establishment of a Beals syndrome patient-derived human induced pluripotent stem cell line HELPi001-A
- Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly
- Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus
- Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes
- Extracellular microfibrils control osteoblast-supported osteoclastogenesis by restricting TGF{beta} stimulation of RANKL production
- Extracellular regulation of transforming growth factor beta and bone morphogenetic protein signaling in bone
- Familial chilblain and late contractural arachnodactyly: a novel association?
- Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the <em>FBN2</em> gene
- Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene
- FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations
- Fibrillin microfibrils in bone physiology
- Fibrillin-3 expression in human development
- Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic events
- Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome
- Genetic models of fibrillinopathies
- Heterogeneity, crosstalk, and targeting of cancer-associated fibroblasts in cholangiocarcinoma
- High-Throughput Genomics Identify Novel <em>FBN1/2</em> Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects
- Highlighter: An optogenetic system for high-resolution gene expression control in plants
- Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing
- Identification of Novel <em>FBN2</em> Variants in a Cohort of Congenital Contractural Arachnodactyly
- Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly
- Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate
- Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report
- Lethal COG6-CDG in neonatal patient with arachnodactyly, joint contractures, and skin manifestations: Founder mutation in the Southeastern European population?
- MicroRNA-27a-3p targets FoxO signalling to induce tumour-like phenotypes in bile duct cells
- Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes
- Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly
- Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly
- Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
- Myopathy, noncompaction, and the Takotsubo phenomenon in congenital contractural arachnodactyly (Beals syndrome)
- New finding of protrusio acetabuli in two families with congenital contractural arachnodactyly. A report of seven cases
- New molecular mechanisms in cholangiocarcinoma: signals triggering interleukin-6 production in tumor cells and KRAS co-opted epigenetic mediators driving metabolic reprogramming
- Outcomes After Liver Transplantation With Incidental Cholangiocarcinoma
- Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly
- Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly
- Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders
- Reproducibility matters: intra- and inter-sample variation of the point-of-care circulating cathodic antigen test in two <em>Schistosoma mansoni</em> endemic areas in Uganda
- Role of fibrillin-2 in the control of TGF-β activation in tumor angiogenesis and connective tissue disorders
- Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion
- Seizures as an Atypical Feature of Beal's Syndrome
- Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
- Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report
- Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review
- Spontaneous coronary dissection in a patient with Beals syndrome
- Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases
- Surgical correction of contractural arachnodactyly deformity of a child with Marfan syndrome
- The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy
- The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations
- The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2
- The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension
- Transcriptional regulation of fibrillin-2 gene by E2F family members in chondrocyte differentiation
- Tumour stage and overall survival in patients with intrahepatic cholangiocarcinoma and primary sclerosing cholangitis - a retrospective cohort study
- Two cases of Birt-Hogg-Dube syndrome combined with congenital contractural arachnodactyly
- Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies
- Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly