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...
Main Authors: | , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-11-01
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Series: | Annals of Clinical and Translational Neurology |
Online Access: | https://doi.org/10.1002/acn3.51209 |