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Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling

Based on the latest gnomAD dataset, the prevalence of symptomatic hereditary cerebral cavernous malformations (CCMs) prone to cause epileptic seizures and stroke-like symptoms was re-evaluated in this review and calculated to be 1:5,400–1:6,200. Furthermore, state-of-the-art molecular genetic analys...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Spiegler, Stefanie, Rath, Matthias, Paperlein, Christin, Felbor, Ute
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5836221/
https://ncbi.nlm.nih.gov/pubmed/29593473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000486292
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