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

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

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...

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Bibliographic Details
Main Authors: Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Yoo-Mi Kim, Hyo-Sang Do, Jeongmin Choi, In Hee Choi, Han-Wook Yoo, Beom Hee Lee
Format: Article
Language:English
Published: BMC 2021-10-01
Series:BMC Medical Genomics
Subjects:
Intellectual disability
Chromatin assembly and disassembly
Language development disorders
Corpus callosum
Whole-exome sequencing
Germline mutation
Online Access:https://doi.org/10.1186/s12920-021-01104-9

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https://doi.org/10.1186/s12920-021-01104-9

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