NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients

Several recent reports have described a missense variant in the gene NR5A1 (c.274C>T; p.Arg92Trp) in a significant number of 46,XX ovotesticular or testicular disorders of sex development (DSDs) cases. The affected residue falls within the DNA‐binding domain of the NR5A1 protein, however the exac...

Descripción completa

Detalles Bibliográficos
Autores principales: Knarston, Ingrid M., Robevska, Gorjana, van den Bergen, Jocelyn A, Eggers, Stefanie, Croft, Brittany, Yates, Jason, Hersmus, Remko, Looijenga, Leendert H. J., Cameron, Fergus J., Monhike, Klaus, Ayers, Katie L., Sinclair, Andrew H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492147/
https://www.ncbi.nlm.nih.gov/pubmed/30350900
http://dx.doi.org/10.1002/humu.23672

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492147/
https://www.ncbi.nlm.nih.gov/pubmed/30350900
http://dx.doi.org/10.1002/humu.23672

Ejemplares similares