ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation

OBJECTIVE: We aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations. METHODS: Patients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the literature. Detailed medical history and examinat...

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Publicado en:Neurol Genet
Main Authors: Alber, Michael, Kalscheuer, Vera M., Marco, Elysa, Sherr, Elliott, Lesca, Gaetan, Till, Marianne, Gradek, Gyri, Wiesener, Antje, Korenke, Christoph, Mercier, Sandra, Becker, Felicitas, Yamamoto, Toshiyuki, Scherer, Stephen W., Marshall, Christian R., Walker, Susan, Dutta, Usha R., Dalal, Ashwin B., Suckow, Vanessa, Jamali, Payman, Kahrizi, Kimia, Najmabadi, Hossein, Minassian, Berge A.
Formato: Artigo
Idioma:Inglês
Publicado: Wolters Kluwer 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5446782/
https://ncbi.nlm.nih.gov/pubmed/28589176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000148
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