ArticleGenes2020
Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders.
Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review.Frontiers in medicine · 2023Pooled it
- Association between ocular manifestations and incident cardiovascular comorbidities in Ehlers Danlos Syndrome.Eye (London, England) · 2026Article
- Exploring Transdiagnostic Eating Disorder Symptoms and Disorder of Gut-Brain Interaction Symptoms in Individuals With Connective Tissue Disorders.The International journal of eating disorders · 2026Article
- Hypermobile Ehlers-Danlos Syndrome: Cerebrovascular, Autonomic and Neuropathic Features.American journal of medicine open · 2025Article
- Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Article
- Conservative Management of Massive Retroperitoneal Hemorrhage in a Patient with Vascular Ehlers-Danlos Syndrome: A Case Report.Vascular specialist international · 2025Article
- Ocular manifestations in Ehlers-Danlos syndrome.Eye (London, England) · 2025Article
- Keratoconus: The Local Manifestation of a Systemic Disease?Journal of clinical medicine · 2025Review
- Head Posture and Upper Spine Morphological Deviations in Patients With Hypermobile Ehlers-Danlos Syndrome.Orthodontics & craniofacial research · 2025Article
- Analysis ofInternational journal of molecular sciences · 2025Article
- Prevalence of Pain and Effect of Joint Strength on Perceived Physical Function in Pediatric Patients With Ehlers-Danlos Syndrome.Archives of rehabilitation research and clinical translation · 2025Article
- Mitochondrial Dysfunction and Its Potential Molecular Interplay in Hypermobile Ehlers-Danlos Syndrome: A Scoping Review Bridging Cellular Energetics and Genetic Pathways.Current issues in molecular biology · 2025Review
- Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Review
- Effects of hypermobile Ehlers-Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors.Journal of genetic counseling · 2024Article
- Trends in surgical procedures for shoulder instability among patients with Ehlers-Danlos syndrome or joint hypermobility syndrome.JSES international · 2024Article
- Chronic Pain and Joint Hypermobility: A Brief Diagnostic Review for Clinicians and the Potential Application of Infrared Thermography in Screening Hypermobile Inflamed Joints.The Yale journal of biology and medicine · 2024Review
- Patients' strategies for numeric pain assessment: a qualitative interview study of individuals with hypermobile Ehlers-Danlos Syndrome.Disability and rehabilitation · 2024Article
- The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders.Biomolecules & biomedicine · 2024Article
- Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.Journal of the American Medical Informatics Association : JAMIA · 2024Article
- Marfan syndrome: insights from animal models.Frontiers in genetics · 2024Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. Clinical recognition of EDS is not always straightforward and for a definite diagnosis, molecular testing can be of great assistance, especially in patients with an uncertain phenotype. Currently, the major challenging task in EDS is to unravel the molecular basis of the hypermobile EDS that is the most frequent form, and for which the diagnosis is only clinical in the absence of any definite laboratory test. This EDS subtype, as well as other EDS-reminiscent phenotypes, are currently investigated worldwide to unravel the primary genetic defect and related pathomechanisms. The research articles, case report, and reviews published in this Special Issue focus on different clinical, genetic and molecular aspects of several EDS subtypes and some related disorders, offering novel findings and future research and nosological perspectives.
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