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The Prenatal Neuro-Radiological Phenotype Associated With a Recurrent Pathogenic Variant in PPP2R1A

Calder Hamill1,2, Stacy Goergen3,4, Michael Fahey1,2,5

  • 1Monash Genetics, Monash Health, Melbourne, Australia.

Prenatal Diagnosis
|July 6, 2025
PubMed
Summary

Prenatal diagnosis of PPP2R1A-related neurodevelopmental disorder (PPP2R1A-rNDD) is possible through characteristic brain imaging. This study identifies key neuroradiological findings associated with a specific PPP2R1A variant.

Keywords:
PPP2R1Acorpus callosum anomaliespons hypoplasiaprenatal diagnosisventriculomegaly

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