Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome

Lignende værker

• Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome
  af: Henneton, Pierrick, et al.
  Udgivet: (2018)
• A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
  af: Giunta, Cecilia, et al.
  Udgivet: (2018)
• Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
  af: Rohrbach, Marianne, et al.
  Udgivet: (2011)
• The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation
  af: Ni, Xiaolin, et al.
  Udgivet: (2020)
• Perforation of the Sigmoid Colon due to Diverticular Rupture in a Woman With FKBP14‐Related Kyphoscoliotic Ehlers‐Danlos Syndrome: A Case Report
  af: Malika Foy, et al.
  Udgivet: (2025-05-01)