Familial STAG2 germline mutation defines a new human cohesinopathy

We characterize a novel human cohesinopathy originated from a familial germline mutation of the gene encoding the cohesin subunit STAG2, which we propose to call STAG2-related X-linked Intellectual Deficiency. Five individuals carry a STAG2 p.Ser327Asn (c.980 G > A) variant that perfectly cosegre...

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Detalles Bibliográficos
Autores principales: Soardi, Fernanda C., Machado-Silva, Alice, Linhares, Natália D., Zheng, Ge, Qu, Qianhui, Pena, Heloísa B., Martins, Thaís M. M., Vieira, Helaine G. S., Pereira, Núbia B., Melo-Minardi, Raquel C., Gomes, Carolina C., Gomez, Ricardo S., Gomes, Dawidson A., Pires, Douglas E. V., Ascher, David B., Yu, Hongtao, Pena, Sérgio D. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677968/
https://www.ncbi.nlm.nih.gov/pubmed/29263825
http://dx.doi.org/10.1038/s41525-017-0009-4

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