Novel NUDT2 variant causes intellectual disability and polyneuropathy

Novel NUDT2 variant causes intellectual disability and polyneuropathy

Abstract Exome or genome sequencing was performed to identify the genetic etiology for the clinical presentation of global developmental delay, intellectual disability, and sensorimotor neuropathy with associated distal weakness in two unrelated families. A homozygous frameshift variant c.186delA (p...

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Bibliographic Details
Main Authors: Frank Diaz, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow, Rebecca Signer, Naghmeh Dorrani, Allison Zheng, Matthew Herzog, Robert Freundlich, Undiagnosed Diseases Network, J. Brandon Birath, Yurivia Cervantes‐Manzo, Julian A. Martinez‐Agosto, Christina Palmer, Stanley F. Nelson, Brent L. Fogel, Shri K. Mishra
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51209

Internet

https://doi.org/10.1002/acn3.51209

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