Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity

Summary: SATB2-associated syndrome is an autosomal dominant neurodevelopmental syndrome caused by genetic alterations in the transcription factor SATB2. The associated phenotype is variable, and genotype-phenotype correlation studies have not yet been able to explain differences in severity and symp...

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Principais autores:	Joery den Hoed, Fleur Semmekrot, Jolijn Verseput, Alexander J.M. Dingemans, Dick Schijven, Clyde Francks, Yuri A. Zarate, Simon E. Fisher
格式:	Artigo
語言:	Inglês
出版:	Elsevier 2026-01-01
叢編:	HGG Advances
主題:	SATB2 SATB2-associated syndrome Glass syndrome neurodevelopmental disorder functional characterization cell-based assays
在線閱讀:	http://www.sciencedirect.com/science/article/pii/S266624772500140X
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