Article
Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum.
Pediatric neurology - 1 May 2017
Calloni Sonia F, Cohen Julie S, Meoded Avner, Juusola Jane, Triulzi Fabio M, Huisman Thierry A G M, Poretti Andrea, Fatemi Ali
Abstract excerpt
BACKGROUND: Axonal guidance disorders are characterized by white matter tracts with an anomalous course, failure to cross the midline, or presence of anomalous white matter tracts. Diffusion tensor imaging (DTI) is a suitable noninvasive, in vivo neuroimaging tool to study axonal guidance disorders. We describe a novel disorder in a boy with compound heterozygous variants in the ROBO1 gene. PATIENT DESCRIPTION:...
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