Online Early: YEAR 2024 VOLUME 2 ISSUE 3

Case report

• De novo variant in the COL1A1 gene associated with orphan genetic disease: Osteogenesis Imperfecta type I

  Jhonatan Alzate Valencia, Lina-Johanna Moreno-Giraldo

  1-8

  

  Supplemental

• De novo genetic variant in epileptic encephalopathy: Importance of specific diagnosis

  Johana Marcela Morán Fernández, Lina Johanna Moreno Giraldo

  1-7

  

• Hypotonic syndrome as a manifestation of an ultra-rare disease caused by a new and de novo variant in the PLA2G6 gene

  Jenny Adriana Morán Fernández, Lina Johanna Moreno Giraldo

  1-8

  

  Supplemental