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]

Jhonatan Alzate Valencia^1,2,3, Lina-Johanna Moreno-Giraldo^4,5,6

1. Clinical Postgraduate Program in Pediatrics, Faculty of Health Sciences, Universidad Libre Cali, Colombia; 2. Research Group in Pediatrics (GRINPED); 3. Neurogenetics and Metabolic Diseases Research Line; 4. Faculty of Health Sciences, Universidad Libre Cali, Colombia; 5. Pediatrics Research Group (GRINPED); 6. Neuro Genetics and Metabolic Diseases Research Line;

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DOI: 10.37980/im.journal.ggcl.20242363

Published: 2024-11-25

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