Dr. Vandana Shashi shares the latest findings on Shashi-Pena Syndrome, as featured in the new GeneReviews article published in November 2024. This article is the first comprehensive update on Shashi-Pena Syndrome since 2016. It expands the medical understanding of the syndrome’s key features, analyzing data from 23 individuals. The ARRE Foundation celebrated this paper as a true collaboration between the ARRE Foundation, the ASXL2 family community, and the medical professionals who wrote the paper.
This recording includes a rare opportunity to learn directly from one of the clinical experts who identified the syndrome, gain deeper insights into current research, and connect with others in our community.
Published: January 2025
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