Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder

Protein phosphatase 2 regulatory subunit B ’ Delta (PPP2R5D)-related neurodevelopmental disorder is a rare genetic condition caused by pathogenic variants in the PPP2R5D gene. Clinical signs include hypotonia, gro...

Source: Orphanet Journal of Rare Diseases - February 7, 2024 Category: Internal Medicine Authors: Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung and Jacqueline Montes Tags: Research Source Type: research