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Article

Genetic etiology of progressive pediatric neurological disorders.

Pediatric research - 1 Jan 2024

Aaltio Juho, Etula Anna, Ojanen Simo, Brilhante Virginia, Lönnqvist Tuula, Isohanni Pirjo, Suomalainen Anu

Abstract excerpt

BACKGROUND: The aim of the study was to characterize molecular diagnoses in patients with childhood-onset progressive neurological disorders of suspected genetic etiology. METHODS: We studied 48 probands (age range from newborn to 17 years old) with progressive neurological disorders of unknown etiology from the largest pediatric neurology clinic in Finland. Phenotypes included encephalopathy (54%), neuromuscular...

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Adolescent
Brain Diseases
Child
Infant, Newborn
Nervous System Diseases

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RNA-Binding Proteins

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PMID: 37563452
DOI: 10.1038/s41390-023-02767-z
PMCID: PMC10798881

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