Article
A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.
Human reproduction update - 1 Mar 2023
Van Der Kelen Annelore, Okutman Özlem, Javey Elodie, Serdarogullari Münevver, Janssens Charlotte, Ghosh Manjusha S, Dequeker Bart J H, Perold Florence, Kastner Claire, Kieffer Emmanuelle, Segers Ingrid, Gheldof Alexander, Hes Frederik J, Sermon Karen, Verpoest Willem, Viville Stéphane
Abstract excerpt
BACKGROUND: As in other domains of medicine, high-throughput sequencing methods have led to the identification of an ever-increasing number of gene variants in the fields of both male and female infertility. The increasing number of recently identified genes allows an accurate diagnosis for previously idiopathic cases of female infertility and more appropriate patient care. However, robust evidence of the...
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