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Article

Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis.

Pediatric neurology - 1 Jul 2016

Aungaroon Gewalin, Hallinan Barbara, Jain Puneet, Horn Paul S, Spaeth Christine, Arya Ravindra

Abstract excerpt

BACKGROUND: Neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders. A better understanding of genotype-phenotype-histology correlation is expected to improve patient care and enhance understanding for phenotypic variability. This meta-analysis studies the correlation of NCL genotypes with clinical phenotypes, ages of onset, and pathologic findings. METHODS: A structured MEDLINE search...

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Source

Identifiers

PMID: 27238410
DOI: 10.1016/j.pediatrneurol.2016.03.018

Genes

NCL
CLN6
CLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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