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Novel CTNNB1 Variant Leading to Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects Plus Peripheral Neuropathy: A Case Report

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

Authors: Spagnoli C, Salerno GG, Rizzi S, Frattini D, Koskenvuo J, Fusco C.

Am J Med Genet A. 2022 Jul 25. doi: 10.1002/ajmg.a.62902. Online ahead of print.

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.