Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation

BACKROUND: Retinal cavernous hemangiomas are rare vascular anomalies, and can be associated with cerebral cavernous malformations (CCM). Distinct mutations have been reported in patients who have both CCMs and retinal cavernous hemangiomas. METHODS: Fluorescein angiography, spectral domain optical c...

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Detalles Bibliográficos
Autores principales: Reddy, Shantan, Gorin, Michael B., McCannel, Tara A., Tsui, Irena, Straatsma, Bradley R.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2910301/
https://www.ncbi.nlm.nih.gov/pubmed/20306072
http://dx.doi.org/10.1007/s00417-010-1329-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2910301/
https://www.ncbi.nlm.nih.gov/pubmed/20306072
http://dx.doi.org/10.1007/s00417-010-1329-6

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