Article

CUX1-related neurodevelopmental disorder: Deep insights into phenotype-genotype spectrum and underlying pathology

2022-12-22

Abstract excerpt

<title>Abstract</title> <p>Heterozygous, pathogenic <italic>CUX1</italic> variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a <italic>Cux1</italic><sup>+/−</sup> mouse model. Through international collaboration, we assembled the phenotypic and...

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Literature Corpus work: 5fcad7a1-4d92-54a9-8e13-140de663f3c6
DOI: 10.21203/rs.3.rs-2401638/v1

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