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Updated: Oct 3, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

Nicolas J Abreu1,2, Amy E Siemon3, Adriane L Baylis4,5,6,7

  • 1Center for Gene Therapy The Abigail Wexner Research Institute of Nationwide Children's Hospital Columbus Ohio USA.

Clinical Case Reports
|February 16, 2022
PubMed

Keywords:
KMT2Ecerebellar hypoplasianeurodevelopmental disordervelopharyngeal dysfunction

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