Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum

STAG2 is a component of the large, evolutionarily highly conserved cohesin complex, which has been linked to various cellular processes like genome organization, DNA replication, gene expression, heterochromatin formation, sister chromatid cohesion, and DNA repair. A wide spectrum of germline varian...

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Autores principales:	Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M Neuhofer, Janine Altmüller, Holger Thiele, Peter Nürnberg, Saskia Biskup, Yun Li, Wolfram Hubertus Zimmermann, Silke Kaulfuß, Gökhan Yigit, Bernd Wollnik
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2022-11-01
Colección:	Frontiers in Cell and Developmental Biology
Materias:	STAG2 cohesinopathies mosaic disorders supernumerary nipples bioengineered neuronal organoids
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fcell.2022.1025332/full
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