Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency

Premature ovarian insufficiency (POI) is a leading form of female infertility, characterised by menstrual disturbance and elevated follicle‐stimulating hormone before age 40. It is highly heterogeneous with variants in over 80 genes potentially causative, but the majority of cases having no known ca...

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Detalles Bibliográficos
Autores principales: Tucker, Elena J., Gutfreund, Niklas, Belaud‐Rotureau, Marc‐Antoine, Gilot, David, Brun, Tiffany, Kline, Brianna L., Bell, Katrina M., Domin‐Bernhard, Mathilde, Théard, Camille, Touraine, Philippe, Robevska, Gorjana, van van den Bergen, Jocelyn, Ayers, Katie L., Sinclair, Andrew H., Dötsch, Volker, Jaillard, Sylvie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9542062/
https://www.ncbi.nlm.nih.gov/pubmed/35801529
http://dx.doi.org/10.1002/humu.24432

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9542062/
https://www.ncbi.nlm.nih.gov/pubmed/35801529
http://dx.doi.org/10.1002/humu.24432

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