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

PURPOSE: 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. METHODS: Four patients (aged 6 months to 13 years), two...

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Detalles Bibliográficos
Autores principales: Volk, Alexander E., Carter, Oliver, Fricke, Julia, Herkenrath, Peter, Poggenborg, Jörg, Borck, Guntram, Demant, Andre W., Ivo, Roland, Eysel, Peer, Kubisch, Christian, Neugebauer, Antje
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154129/
https://www.ncbi.nlm.nih.gov/pubmed/21850172

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