Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

• Main Authors: Yena Lee (Author), Yunha Choi (Author), Go Hun Seo (Author), Gu-Hwan Kim (Author), Changwon Keum (Author), Yoo-Mi Kim (Author), Hyo-Sang Do (Author), Jeongmin Choi (Author), In Hee Choi (Author), Han-Wook Yoo (Author), Beom Hee Lee (Author)
• Format: Book
• Published: BMC, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling complex associated with the regulation of DNA accessibility. Germline mutations in the components of the SWI/SNF complex are related to human developmental disorders, in...