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Article

Validation of a modified version of the Gross Motor Function Measure in PPPR5D related neurodevelopmental disorder

2023-10-10

Abstract excerpt

<title>Abstract</title> <p>BACKGROUND Protein phosphatase 2 regulatory subunit B’ Delta (PPP2R5D)-related neurodevelopmental disorder is a rare genetic condition caused by pathogenic variants in the <italic>PPP2R5D</italic> gene. Clinical signs include hypotonia, gross motor delay, intellectual disability (ID), epilepsy, speech delays, and abnormal gait among other impairments. As this disorder was recognized wi...

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Literature Corpus work
3af701f4-889b-574e-b680-f6f478c2bb0b
DOI
10.21203/rs.3.rs-3363757/v1
Open publication

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Validation of a modified version of the Gross Motor Function Measure in PPPR5D related neurodevelopmental disorderDOI 10.21203/rs.3.rs-3363757/v1
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