Case report
Sep 2026
Potential contributors to variable penetrance of NOTCH3 p.Arg1231Cys Variant
Jeongyeon Hwang, Ayuko Iverson, Amy Woroch et al.
· Neurogenetics · 0 citations
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Case report
Sep 2026
Expansion of the Clinical and Molecular Spectrum of LINS1-Associated Disease.
LINS1 gene plays a role in cognition and brain development. Mutations in this gene have been identified as the cause of a neurodevelopmental disorder as well as dysmorphisms, motor symptoms, behavioral problems, seizures, microcephaly, mitral valve prolapse, and Q-T prolongation. We recruited two related families with...
A. Ibrahim, Erik Levine, Ayuko Iverson et al.
· American Journal of Medical... · 0 citations