Article

Clinical characterization and genotype–phenotype correlations in Chilton-Okur-Chung syndrome

2026-08-14

Abstract excerpt

Chilton-Okur-Chung neurodevelopmental syndrome is a rare disorder characterized by global developmental delay, variable intellectual disability, behavioral challenges, and structural brain anomalies caused by variants in CDC42BPB . CDC42BPB encodes MRCKβ, a ubiquitously expressed serine/threonine kinase involved in cytoskeletal regulation. The phenotypic spectrum and genotype–phenotype relationships remain incompl...

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Literature Corpus work: 136cd2b9-2c3c-5bf7-98ec-a0cfbc801132
DOI: 10.1186/s12920-026-02448-w

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