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

• Principais autores: Yena Lee (Autor), Yunha Choi (Autor), Go Hun Seo (Autor), Gu-Hwan Kim (Autor), Changwon Keum (Autor), Yoo-Mi Kim (Autor), Hyo-Sang Do (Autor), Jeongmin Choi (Autor), In Hee Choi (Autor), Han-Wook Yoo (Autor), Beom Hee Lee (Autor)
• Formato: Livro
• Publicado em: BMC, 2021-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...