YEAR 2024 VOLUME 2 ISSUE 1

Published: 2024-04-30

View YEAR 2024 VOLUME 2 ISSUE 1

Editorial

Awareness of rare genetic diseases in daily clinical practice

Jorge D. Méndez-Ríos

1-2

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Original research

Characterization and prevalence of comorbidities in pediatric patients with Down syndrome in the Dominican Republic

Katlin De La Rosa Poueriet, Andrea Irina Servalle Mella, Bary Bigay Mercedes

3-7

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Case report

Current genomic diagnostic challenges in Hemophagocytic Syndromes in pediatrics: Case report

Juan Manuel Sánchez-Vargas, Lina Johanna Moreno Giraldo

8-15

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Aggrecanopathies: Report of a Spondyloepiphyseal Dysplasia Kimberley type (SEDK) in a family, caused by a previously undescribed likely pathogenic variant of the ACAN gene

Enrique Daniel Austin-Ward, Jean Villegas

16-22

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Literature Review

Membranous nephropathy: genetics, antigens and antibodies

Karen Courville, Norman Bustamante

23-28

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