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March 27, 2026Open Access Rheumatology Research and ReviewsOpen Access

Insights into TNXB-Related Classical-Like Ehlers–Danlos Syndrome: A Study of Polish Patients

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Authors

AJAnna Junkiert-CzarneckaMPMaria Pilarska-DeltowMKMagdalena M. Kacprzak

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Overview

Identifies TNXB variants in Polish patients with classical-like Ehlers-Danlos syndrome, suggesting complex genotype-phenotype correlations.

Key Points

  • The study aims to identify and characterize TNXB-related variants in Polish patients with classical-like Ehlers–Danlos syndrome.
  • Performed genetic testing using next-generation sequencing with a connective tissue gene panel
  • Applied multiplex ligation-dependent probe amplification (MLPA)
  • Conducted Sanger sequencing and family segregation analysis for confirmation
  • Identified two compound heterozygous TNXB variants in Patient 1 and Patient 2
  • Both patients met major diagnostic criteria for classical-like EDS
  • Variants localized in non-homologous TNXB exons to reduce misinterpretation risk

Cite This Study

Junkiert-Czarnecka et al. (2026) studied this question.

synapsesocial.com/papers/69c6209315a0a509bde19186https://doi.org/10.2147/oarrr.s574513
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