Research By Disease – CheckOrphan

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 FBN2 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 FBN2 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 fibrillin-2 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 fibrillin-2 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 FBN2 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 FBN1/2 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 FBN2 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 Schistosoma mansoni 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