[Una revolución genómica: Avances en salud y conocimiento en América Latina] Jorge David Méndez Ríos1,2 1. Laboratory…
Category: Featured articles
De novo variant in the COL1A1 gene associated with orphan genetic disease: Osteogenesis Imperfecta type I
[Variante de novo en el gen COL1A1 asociado a enfermedad genética huérfana: Osteogénesis Imperfecta tipo I]…
Hypotonic syndrome as a manifestation of an ultra-rare disease caused by a new and de novo variant in the PLA2G6 gene
[Síndrome hipotónico como manifestación de enfermedad ultrarara causada por variante nueva y de novo en el…
De novo genetic variant in epileptic encephalopathy: Importance of specific diagnosis
[Variante genética de novo en encefalopatía epiléptica: Importancia del diagnóstico específico] Johana Marcela Morán Fernández1,2, Lina…
Detection of a genetic variant of Apert syndrome
[Detección de una variante genética del Síndrome de Apert] Daniela Lynett1, María Paola Lubo López1, Laura…
Advances and Perspectives of Genetic Pathologies in the 21st century.
[Avances y Perspectivas de las Patologías Genéticas en el siglo XXI] Paula Andrea Rodríguez Ocampo1, David…
Editorial Team – Vol 2 Num 1 2024
Year 2024, Volume 2, Issue 1Published: April 30th, 2024 Editors and Reviewers The following team of…
Characterization and prevalence of comorbidities in pediatric patients with Down syndrome in the Dominican Republic
Authores: Katlin De La Rosa Poueriet1, Andrea Irina Servalle Mella2, Bary Bigay Mercedes3 This study analyzes…
Current genomic diagnostic challenges in Hemophagocytic Syndromes in pediatrics: Case report
Authors: Juan Manuel Sánchez-Vargas1, Lina Johanna Moreno Giraldo1 Introduction: Familial hemophagocytic lymphohistiocytosis (FHL) is a disease…
Aggrecanopathies: Report of a Spondyloepiphyseal Dysplasia Kimberley type (SEDK) in a family, caused by a previously undescribed likely pathogenic variant of the ACAN gene
Authors: Enrique Daniel Austin-Ward1, Jean Villegas2 The study of patients with short stature is complex and…