ArticleGenes2019
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel
Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 28 citations in OpenAlex.
- Insights into TNXB-Related Classical-Like Ehlers-Danlos Syndrome: A Study of Polish Patients.Open access rheumatology : research and reviews · 2026Article
- Molecular Pathogenesis of Joint Hypermobility: The Role of Intergenic Interactions.Medical sciences (Basel, Switzerland) · 2025Article
- Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal Ruptures.Clinical and translational gastroenterology · 2025Article
- Article
- Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in theJournal of pediatric genetics · 2023Article
- Extracellular matrix in skin diseases: The road to new therapies.Journal of advanced research · 2023Review
- Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population.Advances in laboratory medicine · 2023Article
- Article
- Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.Frontiers in genetics · 2023Article
- Article
- Article
- Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Review
- Ehlers-Danlos Syndrome in the Field of Psychiatry: A Review.Frontiers in psychiatry · 2021Review
- Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.Molecular genetics & genomic medicine · 2020Article
- Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.Orphanet journal of rare diseases · 2020Article
- Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders.Genes · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Ehlers-Danlos syndromes (EDS) constitute a clinically and genetically heterogeneous group of connective tissue disorders. Tenascin X (TNX) deficiency is a rare type of EDS, defined as classical-like EDS (clEDS), since it phenotypically resembles the classical form of EDS, though lacking atrophic scarring. Although most patients display a well-defined phenotype, the diagnosis of TNX-deficiency is often delayed or overlooked. Here, we described an additional patient with clEDS due to a homozygous
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