The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A
Prenat Diagn. 2025 Jul 6. doi: 10.1002/pd.6851. Online ahead of print. ABSTRACT BACKGROUND: PPP2R1A-related neurodevelopmental disorder (PPP2R1A-rNDD) is a rare condition marked by developmental delay, …