HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation

OBJECTIVE: To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness. METHODS: Whole-exome sequencing was performed, and segregation testing of variants was investigated using targeted Sanger sequencing. An inheri...

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Publicado no:Neurol Genet
Main Authors: Donkervoort, Sandra, Bharucha-Goebel, Diana, Yun, Pomi, Hu, Ying, Mohassel, Payam, Hoke, Ahmet, Zein, Wadih M., Ezzo, Daniel, Atherton, Andrea M., Modrcin, Ann C., Dasouki, Majed, Foley, A. Reghan, Bönnemann, Carsten G.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5432370/
https://ncbi.nlm.nih.gov/pubmed/28534044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000151
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