Article

<i>RAB23</i> loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome

2025-02-11

Abstract excerpt

The primary cilium is a signal transduction organelle whose dysfunction clinically causes ciliopathies in humans. RAB23 is a small GTPase known to regulate the Hedgehog signalling pathway and ciliary trafficking. Mutations of RAB23 in humans lead to Carpenter syndrome (CS), an autosomal recessive disorder clinically characterized by craniosynostosis, polysyndactyly, skeletal defects, obesity, and intellectual dis...

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Literature Corpus work: d65357ea-48e5-5418-8c31-747c65884970
DOI: 10.1101/2025.02.10.637381

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