Review paper

Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

Volume: 10, Issue: 1
Published: Jul 4, 2019
Abstract
Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation in a BAF core component gene, Smarcb1 . These Smarcb1 mutant mice show various brain...
Paper Details
Title
Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
Published Date
Jul 4, 2019
Volume
10
Issue
1
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