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Article

Neurodevelopmental disorder associated with gene ARF3: A case report.

American journal of medical genetics. Part A - 1 Sept 2024

Dos Santos Henrique Suelen, França Mariana Jordão, Silva Junior Rui Carlos, Santos Mara Lúcia Schmitz Ferreira, do Valle Daniel Almeida

Abstract excerpt

We present a case study of a patient exhibiting acquired microcephaly along with global developmental delay and drug-resistant epilepsy. Brain magnetic resonance imaging revealed distinctive features, including a Z-shaped morphology of the brainstem, volumetric reduction of white matter, diffuse thinning of the corpus callosum, and partial fusion of the cerebellar hemispheres at their most cranial portion....

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Identifiers

PMID: 38712921
DOI: 10.1002/ajmg.a.63658

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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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