Azevedo, C. B., Delgado, L. A., Almeida, M. L., Rodrigues, S. and Almeida, A. (2026) “A novel pathogenic heterozygous mutation in the CDC42BPB gene: a case report of global developmental delay potentially associated with Chilton-Okur-Chung syndrome”, International Journal of Contemporary Pediatrics, 13(10), pp. 2128–2133. doi: 10.18203/2349-3291.ijcp20263321.