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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Syndromol
Päätekijät: Spiegler, Stefanie, Rath, Matthias, Paperlein, Christin, Felbor, Ute
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: S. Karger AG 2018
Aiheet:
Linkit: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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