Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Disorders of sex development (DSDs) are conditions affecting development of the gonads or genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of 46,XY DSD, but the genetic basis of many DSDs remains unknown. SRY-mediated SOX9 upregulation in the early gonad is cru...

Descripción completa

Detalles Bibliográficos
Autores principales: Croft, Brittany, Ohnesorg, Thomas, Hewitt, Jacqueline, Bowles, Josephine, Quinn, Alexander, Tan, Jacqueline, Corbin, Vincent, Pelosi, Emanuele, van den Bergen, Jocelyn, Sreenivasan, Rajini, Knarston, Ingrid, Robevska, Gorjana, Vu, Dung Chi, Hutson, John, Harley, Vincent, Ayers, Katie, Koopman, Peter, Sinclair, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293998/
https://www.ncbi.nlm.nih.gov/pubmed/30552336
http://dx.doi.org/10.1038/s41467-018-07784-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293998/
https://www.ncbi.nlm.nih.gov/pubmed/30552336
http://dx.doi.org/10.1038/s41467-018-07784-9

Ejemplares similares