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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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Bibliografische gegevens
Hoofdauteurs: Reddy, Shantan, Gorin, Michael B., McCannel, Tara A., Tsui, Irena, Straatsma, Bradley R.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer-Verlag 2010
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2910301/
https://ncbi.nlm.nih.gov/pubmed/20306072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00417-010-1329-6
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