Skip to main content
Quest Diagnostics

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.

Our company

Quest® is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies. Quest Diagnostics Incorporated and certain affiliates are CLIA certified laboratories that provide HIPAA covered services.  Other affiliates operated under the Quest® brand, such as Quest Consumer Inc., do not provide HIPAA covered services. 

 

Quest®, Quest Diagnostics®, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third-party marks—® and ™—are the property of their respective owners. © 2024 Quest Diagnostics Incorporated. All rights reserved. Image content features models and is intended for illustrative purposes only.