Yanyan Dai, Jerry Zhang, Dandan Wu, Ran Chen, Rong Li
tlooto Summary
This study is designed to characterize the clinical phenotype of neurodevelopmental disorder in a cohort of seven children associated with variants in the HUWE1.
Abstract
The HUWE1 gene plays a crucial role in mediating embryonic development as well as the differentiation and proliferation of neural cells. Variants in the HUWE1 are closely associated with intellectual developmental disorder. This study is designed to characterize the clinical phenotype of neurodevelopmental disorder in a cohort of seven children associated with variants in the HUWE1.
Citation format
DAI, Yanyan, et al. Novel huwe1‐related neurodevelopmental disorder: Genotypic and phenotypic expansion. INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2026, 86(1): e70106.