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

Abstract Background 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, gross motor delay, intellectual disability (ID), epilepsy, speech delay...

Popoln opis

Bibliografske podrobnosti

Principais autores:	Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung, Jacqueline Montes
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2024-02-01
Serija:	Orphanet Journal of Rare Diseases
Teme:	Outcome measures Clinical trials Motor function Neurodevelopmental disorders Natural history Gross motor function measure (GMFM)
Online dostop:	https://doi.org/10.1186/s13023-024-03067-3
Oznake:	Označite Brez oznak, prvi označite!