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Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

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 th...

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Detalhes bibliográficos
Main Authors: Chan, W‐M, Traboulsi, E I, Arthur, B, Friedman, N, Andrews, C, Engle, E C
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563249/
https://ncbi.nlm.nih.gov/pubmed/16525029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.035436
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