How does somatic mosaicism contribute to ephrinB2-EphB4-RASA1-related cerebrovascular disease pathogenesis?

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Description

The abstract identifies somatic mosaicism as a potential mechanism but doesn’t explain how it contributes to disease development. This knowledge gap limits understanding of disease penetrance and could impact genetic counseling and treatment strategies.

Gap type: open_question Source paper: EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease. (2019, Trends Mol Med, PMID:30819650)

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