Neurodevelopmental disorder associated with gene ARF3: A case report
Suelen dos Santos Henrique,
Mariana Jordão França,
Rui Carlos Silva Junior
et al.
Abstract: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. Whole‐exome sequencing uncovered a pathogenic variant in the ARF3 gene c.200A>T, p.(Asp67Val). The neu… Show more
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