Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

Antzeko izenburuak

• Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes
  nork: Chiarelli, Nicola, et al.
  Argitaratua: (2019)
• Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
  nork: Ritelli, Marco, et al.
  Argitaratua: (2020)
• Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts
  nork: Chiarelli, Nicola, et al.
  Argitaratua: (2019)
• 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
  nork: Ritelli, Marco, et al.
  Argitaratua: (2020)
• Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
  nork: Ritelli, Marco, et al.
  Argitaratua: (2019)