Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene

BACKGROUND: Cerebral cavernous malformations (CCM) present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives. We therefore studied clinical expression in a famil...

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Detalhes bibliográficos

Publicado no:	BMC Neurol
Principais autores:	Lucas, Miguel, Costa, Alzenire F, García-Moreno, José M, Solano, Francisca, Gamero, Miguel A, Izquierdo, Guillermo
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2003
Assuntos:	Case Report
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC184376/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12877753/ https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2377-3-5
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