Article

A clinical analysis and diagnosis course of children with PURA-related neurodevelopmental disorders in Tianjin, China

2021-04-21

Abstract excerpt

PURA- related neurodevelopmental disorders are characterised by moderate to severe neurodevelopmental delay, and their morbidity rate is clinically low in children. We retrospectively conducted a clinical analysis and diagnosis course of neurodevelopmental disorders and found it was related to PURA by whole-exome sequencing (WES). A 35-day male infant was found to have mutations in the PURA gene, and the clinical...

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Literature Corpus work: 516c79a1-5df5-5515-a9c8-7183c1590b4a
DOI: 10.21203/rs.3.rs-445079/v1

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