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Rare 19q13.42 duplication encompassing PRKCG associated with neurodevelopmental abnormalities

Jiasun Su1, Lin Yang2, Huiping Li3

  • 1Division of Neonatology and Center for Newborn Care, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Translational Pediatrics
|June 15, 2026
PubMed
Summary

Rare 19q13.42 duplications are linked to neurodevelopmental disorders (NDDs). This study identifies PRKCG as a candidate gene for NDDs associated with these duplications, suggesting a genotype-phenotype framework.

Keywords:
19q13.42PRKCGduplicationneurodevelopmental delaypediatrics

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