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

Background Neuronal Ceroid Lipofuscinosis (NCL) disorders, recognized as the primary cause of childhood dementia globally, constitute a spectrum of genetic abnormalities. CLN8, a subtype within NCL, is characterized by cognitive decline, motor impairment, and visual deterioration. This study focuses...

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Bibliographic Details

Main Author:	Baltar, Federico (author)
Other Authors:	Simoes, Camila (author), Garagorry, Francisco (author), Graña, Martín (author), Rodríguez, Soledad (author), Aunchayna, María Haydée (author), Tapié, Alejandra (author), Cerisola, Alfredo (author), González, Gabriel (author), Naya, Hugo (author), Spangenberg, Lucía (author), Raggio, Víctor (author)
Format:	article
Language:	English
Published:	2024
Subjects:	genómica médica Ciencias Naturales y Exactas Ciencias de la Computación e Información Ciencias de la Información y Bioinformática Ciencias Médicas y de la Salud Medicina Básica Genética Humana
Online Access:	https://hdl.handle.net/20.500.12381/4062
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