Functional characterisation of human recessive DIS3 variants in premature ovarian insufficiency

Premature ovarian insufficiency (POI) is characterised by the loss or complete absence of ovarian activity in women under the age of 40. Clinical presentation of POI varies with phenotypic severity ranging from premature loss of menses to complete gonadal dysgenesis. POI is genetically heterogeneous...

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Veröffentlicht in:	Biology of reproduction 2024-10
Hauptverfasser:	Kline, Brianna L, Siddall, Nicole A, Wijaya, Fernando, Stuart, Catherine J, Orlando, Luisa, Bakhshalizadeh, Shabnam, Afkhami, Fateme, Bell, Katrina M, Jaillard, Sylvie, Robevska, Gorjana, Bergen, Jocelyn A, Shahbazi, Shirin, Hoof, Ambro, Ayers, Katie L, Hime, Gary R, Sinclair, Andrew H, Tucker, Elena J
Format:	Artikel
Sprache:	eng
Schlagworte:	Life Sciences Reproductive Biology
Online-Zugang:	Volltext
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