Article
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.
Journal of medical genetics - 1 Mar 2006
Chan W-M, Traboulsi E I, Arthur B, Friedman N, Andrews C, Engle E C
Abstract excerpt
BACKGROUND: Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterised by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to decussate in the medulla. We previously reported that HGPPS patients from consanguineous pedigrees harbour homozygous mutations in the axon guidance molecule ROBO3....
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