Sandra Rodrigues

A novel pathogenic heterozygous mutation in the CDC42BPB gene: a case report of global developmental delay potentially associated with Chilton-Okur-Chung syndrome

Terminal deletions involving chromosome 14q32 are exceptionally rare and associated with variable neurodevelopmental phenotypes. We report a female child with fetal growth restriction, axial hypotonia, global developmental delay, delayed motor acquisition, and characteristic craniofacial dysmorphisms, including high fo...