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Updated: Feb 23, 2026

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
Published on: September 4, 2017
Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis
Mary T Labowsky1, Scott D Walter2, Marie T McDonald3
1Duke University, School of Medicine, Durham, North Carolina.
Abstract:
Evaluation for intracranial lesions in a patient with retinal cavernous hemangiomas is vital for early recognition of this heritable and potentially life-threatening disease. We report a case of a highly penetrant but variably expressed form of cerebral cavernous malformation syndrome with cerebral, cutaneous, and retinal cavernomas in a family found to harbor a nonsense mutation of the CCM1 gene.
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