Year 2024, Volume 2, Issue 1Published: April 30th, 2024 Editors and Reviewers The following team of…
Day: May 13, 2024
Awareness of rare genetic diseases in daily clinical practice
Author: Jorge D. Méndez-Ríos1 In this issue, we are pleased to present 4 multidisciplinary papers that…
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…
Membranous nephropathy: genetics, antigens and antibodies
Authors: Karen Courville1, Norman Bustamante2 Membranous nephropathy is a kidney disorder that thickens the glomerular basement…