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Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom

Abstract Background Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited neurodegenerative disorders that mostly arise in childhood. Each of the NCLs is a genetically distinct disease caused by variants in at least 13 different genes (CLN1–CLN14). NCLs are ne...

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Principais autores: Sara E. Mole, Paul Gissen, Shannon Nordstrom, Suzanne Wait, Louise Allen, Mathilda Antonini, Liz Brownnutt, Richard Brown, Barbara Cole, Frances Gibbon, Robert H. Henderson, Sarah Kenrick, Zlatko Sisic, Bob Thompson, Joanna Nightingale
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2025-05-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
Batten disease
Neuronal ceroid lipofuscinoses
CLN2 disease
CLN3 disease
Parents
Siblings
Acesso em linha:https://doi.org/10.1186/s13023-025-03747-8
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