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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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Detalles Bibliográficos
Autores principales:	Lucas, Miguel, Costa, Alzenire F, García-Moreno, José M, Solano, Francisca, Gamero, Miguel A, Izquierdo, Guillermo
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2003
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC184376/ https://www.ncbi.nlm.nih.gov/pubmed/12877753 http://dx.doi.org/10.1186/1471-2377-3-5

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