ListarInvestigación y Desarrollo por tema "Rare disease"
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Article
Prevalence and genotypic associations of epilepsy in Prader-Willi Syndrome: A systematic review and meta-analysis (2024)
(Academic Press Inc., 2024)Objective: To estimate the prevalence of epilepsy and febrile seizures and their association with genotype, i.e., 15q11-q13 deletions, uniparental chromosome 15 disomy (UPD) and other mutations, in the population with ...