Tucker, M. E., Lyons, M. J., Demo, E., Wilkes, M. J., Fry, D., MacCarrick, G., Fleischer, J., Thomas, M. J., Groepper, D., and Steding, Catherine

Loeys-Dietz syndrome (LDS) is a connective tissue disorder that commonly results in a dilated aorta, aneurysms, joint laxity, craniosynostosis, and soft skin that bruises easily. Neurodevelopmental abnormalities are uncommon in...

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Afawi, Z., Goldberg-Stern, H., Helbig, I., Hammer, M., Pendziwiat, M., Cumbay, Medhane, Johnstone, L., Pan, Y., and Cummins, T.

Objective: Family members carrying the same SCN1A variant often exhibit differences in the clinical severity of epilepsy. This variable expressivity suggests that other factors aside from the primary sodium channel variant...

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