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August 23, 2024Journal of Translational MedicineOpen Access

Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome

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Authors

LALaura AmodeiARAnna Giulia RuggieriFPFrancesca Potenza

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Amodei et al. (2024) studied this question.

synapsesocial.com/papers/68e5b27db6db64358754b67dhttps://doi.org/10.1186/s12967-024-05582-0
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Marinesco–Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature2025
  2. 2Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family2026
  3. 3Muscle Imaging Approaches in Marinesco–Sjögren Syndrome: A Systematic Review and Two New Clinical Reports2026
  4. 4Cosegregation of congenital dysferlinopathy phenotype and marinesco–sjögren syndrome: a case report with literature review2026
  5. 5WCN26-5934 A SAMD9L missense mutation drives autosomal dominant cystic kidney disease and c-Myc activation in mice2026