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

• Detection of a genetic variant of Apert syndrome

  Daniela Lynett, María Paola Lubo López, Laura Andrea Rojas Arbelaez, Paula Andrea Rodríguez Ocampo, Lev Bladimir Ramirez, Daniel Jimenez, Luis Gustavo Celis Regalado, Nathalia Fonque Ojeda, Gabriela García Montoya

  1-10