Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.

Autor: Baltar, Federico, Simoes, Camila, Garagorry, Francisco, Graña, Martín, Rodríguez, Soledad, Haydée Aunchayna, María, Tapié, Alejandra, Cerisola, Alfredo, González, Gabriel, Naya, Hugo, Spangenberg, Lucía, Raggio, Víctor
Zdroj: Frontiers in Pediatrics; 2024, p1-7, 7p
Databáze: Complementary Index