Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

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Abstract

Clinical and molecular characterization of patients with horizontal gaze palsy with progressive scoliosis (HGPPS) to extend existing knowledge of the phenotype caused by mutations in the Roundabout homolog of Drosophila 3 (ROBO3) gene.

Bibliografische Daten

OriginalspracheEnglisch
ISSN1090-0535
StatusVeröffentlicht - 2011
pubmed 21850172