Primary ovarian insufficiency associated with autosomal abnormalities: from chromosome to genome-wide and beyond

Abstract excerpt

OBJECTIVE: The pathophysiology of primary ovarian insufficiency (POI) is not well elucidated. Many candidate genetic aberrations are on the X-chromosome; on the contrary, many genetic perturbations are also on the autosomes. The aim of this review is to summarize the knowledge of genetic aberrations on autosomes from chromosomal rearrangement, gene abnormality, genome-wide association studies and epigenetics....

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• Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
• Share to Ovarian function and disorders
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