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

8 Jul 2022

Abstract excerpt

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 cause. One gene implicated in POI pathology is TP63. TP63 encodes multiple p63 isoforms, one of which has been shown...

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PMID: 35801529
DOI: 10.1002/humu.24432

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