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Article

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).

American journal of medical genetics. Part A - 1 Jul 2014

Ferreira Carlos, Poretti Andrea, Cohen Julie, Hamosh Ada, Naidu Sakkubai

Abstract excerpt

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) has recently been associated with a single heterozygous p.D249N mutation in TUBB4A. We describe two novel mutations in this gene. A p.C239F mutation was found in one of the originally described H-ABC patients, for whom we pr...

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Identifiers

PMID: 24706558
DOI: 10.1002/ajmg.a.36526
PMCID: PMC10506160

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24706558-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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