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 gen PLA2G6]

Jenny Adriana Morán Fernández^1,2,3, Lina Johanna Moreno Giraldo^1,2,3

1. Pediatrics Research Group (GRINPED); 2. Department of Pediatrics and Medical Genetics, Universidad Libre Seccional Cali; 3. Neurogenetics and Metabolic Diseases Research Group (NEUROMET);

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DOI: 10.37980/im.journal.ggcl.20242380

Published: 2024-11-25

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