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Article

Expanding The Clinical Phenotype and Genetic Spectrum of PURA-Related Neurodevelopmental Disorders

2021-02-08

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 deletion syndrome and PURA syndrome. PURA-NDDs are characterized by neonatal hypotonia, moderate to severe global developmental delay/intellectual disability (GDD/ID), facial dysmorphism, epileptic seizures, nonepileptic movement disorders, and ophthalmological problems. PURA-NDDs have recently...

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Literature Corpus work
3d1a5a36-ba2a-5f22-ae44-db812ca83d06
DOI
10.21203/rs.3.rs-163113/v1
Open publication

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Expanding The Clinical Phenotype and Genetic Spectrum of PURA-Related Neurodevelopmental DisordersDOI 10.21203/rs.3.rs-163113/v1
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