Article
Bi-allelic variants in <i>WDR47</i> lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans
2023-12-22
Abstract excerpt
<h4>ABSTRACT</h4> The corpus callosum (CC) is the largest interhemispheric connection that is largely formed by the axons of layer 2/3 callosal projection neurons (CPNs) through a series of tightly regulated cellular events, including neuronal specification, migration, axon extension and branching. Defects in any of those steps may prevent the proper development of the corpus callosum resulting in a spectrum of d...
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Identifiers and source
- Literature Corpus work
- 213bbc4f-23c6-5759-84b2-5ddb186fe0ae
- DOI
- 10.1101/2023.12.22.572779
