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Article

Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report.

American journal of medical genetics. Part A - 1 Oct 2022

Spagnoli Carlotta, Salerno Grazia G, Rizzi Susanna, Frattini Daniele, Koskenvuo Juha, Fusco Carlo

Abstract excerpt

Pathogenic variants in the β1-catenin (CTNNB1) gene have been identified in patients with various diseases, including syndromic intellectual disability, autism spectrum disorder, familial exudative vitreoretinopathy, and neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). We report on the clinical, genetic, neuroimaging, and neurophysiological data of a 15-year-old patient with complex...

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PMID: 35880249
DOI: 10.1002/ajmg.a.62902

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