Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males

BACKGROUND: The cohesin complex is a multi‐subunit protein complex which regulates sister chromatid cohesion and separation during cellular division. In addition, this evolutionarily conserved protein complex plays an integral role in DNA replication, DNA repair, and the regulation of transcription....

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Detalles Bibliográficos
Autores principales: Mullegama, Sureni V., Klein, Steven D., Signer, Rebecca H., Vilain, Eric, Martinez‐Agosto, Julian A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393687/
https://www.ncbi.nlm.nih.gov/pubmed/30447054
http://dx.doi.org/10.1002/mgg3.501

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393687/
https://www.ncbi.nlm.nih.gov/pubmed/30447054
http://dx.doi.org/10.1002/mgg3.501

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