Fe de errores de «Nueva variante patogénica c.3855 + 4A >G en el gen NIPBL asociada al síndrome de Cornelia de Lange tipo 1 (OMIM#122470)» [An Pediatr (Barc). 2025;102:503771]

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Authors: Sandra Maeso-Méndez, Saioa Jiménez Echevarría, Zuriñe García Casales, Ignacio Díez López
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Fields of Study & Subjects

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Anales de Pediatría
Volume
104
Issue
4
Pages
504193–504193
Publication date
16 March 2026
Language
ES