Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency
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DOI: 10.1002/humu.24432
Abstract: 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… read more here.
Keywords: poi; p63; tp63; missense variants ... See more keywords