A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia
Article in Clinical Dysmorphology (January 2024)
The most recent citing publications are shown below. View all 11 publications that cite this research output on Dimensions.
Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephaly
Preprint in bioRxiv (December 2022)
Biochemical Pathways of Cellular Mechanosensing/Mechanotransduction and Their Role in Neurodegenerative Diseases Pathogenesis
Article in Cells (October 2022)