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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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Principais autores: 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
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-11-01
coleção:Frontiers in Cell and Developmental Biology
Assuntos:
STAG2
cohesinopathies
mosaic disorders
supernumerary nipples
bioengineered neuronal organoids
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fcell.2022.1025332/full
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