Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients

Samankaltaisia teoksia

• Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
  Tekijä: Chloe Angwin, et al.
  Julkaistu: (2023-04-01)
• 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
  Tekijä: Marco Ritelli, et al.
  Julkaistu: (2020-10-01)
• Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.
  Tekijä: Nicola Chiarelli, et al.
  Julkaistu: (2018-01-01)
• Clinical and molecular characterization of an 18‐month‐old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review
  Tekijä: Marco Ritelli, et al.
  Julkaistu: (2019-07-01)
• Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers–Danlos syndrome
  Tekijä: Chloe Angwin, et al.
  Julkaistu: (2023-03-01)