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Updated: Jan 18, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary

Alanna Strong1,2,3, Caoimhe McKenna4, Karen Stals5

  • 1Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

American Journal of Medical Genetics. Part A
|May 26, 2025
PubMed
Abstract

Keywords:
RREB1Noonan syndromeRAS/MAPKRASopathy

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