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Article

Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).

Developmental medicine and child neurology - 1 Jul 2010

Adams Heather R, Beck Christopher A, Levy Erika, Jordan Rachel, Kwon Jennifer M, Marshall Frederick J, Vierhile Amy, Augustine Erika F, de Blieck Elisabeth A, Pearce David A, Mink Jonathan W

Abstract excerpt

AIM: The primary aim of this investigation was to examine genotype and clinical phenotype differences in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL) who were homozygous for a common disease-causing deletion or compound heterozygous. The secondary aim was to cross-validate the Child Behavior Checklist (CBCL) and the Unified Batten Disease Rating Scale (UBDRS), a disease-specific JNCL rating...

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Source

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Identifiers

PMID: 20187884
DOI: 10.1111/j.1469-8749.2010.03628.x
PMCID: PMC2895016

Genes

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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