ArticleOpen access rheumatology : research and reviews2026
Insights into TNXB-Related Classical-Like Ehlers-Danlos Syndrome: A Study of Polish Patients.
Article in Open access rheumatology : research and reviews, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders with diverse clinical and genetic backgrounds. Classical-like EDS (clEDS, OMIM 606408) is an extremely rare autosomal recessive subtype caused by biallelic variants in Methods: Two male patients, aged 13 and 14 years, underwent comprehensive genetic testing, including next-generation sequencing (NGS) using a connective tissue gene panel, Multiplex Ligation-dependent Probe Amplification (MLPA), and Sanger sequencing. Family segregation analysis was performed to confirm compound heterozygosity. Results: NGS and confirmatory analyses identified compound heterozygous Conclusion: This report presents the first genetically confirmed Polish patients with a classical-like form of Ehlers-Danlos syndrome, expanding the known clinical and molecular spectrum of
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