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Article

Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy.

Journal of child neurology - 1 Sept 2021

Gavazzi Francesco, Charsar Brittany A, Williams Catherine, Shults Justine, Alves Cesar A, Adang Laura, Vanderver Adeline

Abstract excerpt

Mutations in TUBB4A are associated with a spectrum of neurologic disorders categorized as TUBB4A-related leukoencephalopathy. Affected children can present with global developmental delay or normal early development, followed by a variable loss of skills over time. Further research is needed to characterize the factors associated with the divergent developmental trajectories in this rare monogenic disorder...

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Source

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Identifiers

PMID: 34514881
DOI: 10.1177/08830738211000977
PMCID: PMC8505576

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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