Familial STAG2 germline mutation defines a new human cohesinopathy

Familial STAG2 germline mutation defines a new human cohesinopathy

Intellectual disability: mutation in cell cycle protein causes developmental disease A newly discovered developmental disease is characterized by mutations in a subunit of the cohesin protein involved in cell division. A team led by Sérgio Pena from GENE—Núcleo de Genética Médica, Brazil, and Hongta...

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Main Authors: Fernanda C. Soardi, Alice Machado-Silva, Natália D. Linhares, Ge Zheng, Qianhui Qu, Heloísa B. Pena, Thaís M. M. Martins, Helaine G. S. Vieira, Núbia B. Pereira, Raquel C. Melo-Minardi, Carolina C. Gomes, Ricardo S. Gomez, Dawidson A. Gomes, Douglas E. V. Pires, David B. Ascher, Hongtao Yu, Sérgio D. J. Pena
Format: Article
Language:English
Published: Nature Portfolio 2017-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-017-0009-4

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