Article
A novel missense variant in CDK5RAP2 associated with non-obstructive azoospermia.
Taiwanese journal of obstetrics & gynecology - 1 Nov 2023
Rahimian Mouness, Askari Masomeh, Salehi Najmeh, Riccio Andrea, Jaafarinia Mojtaba, Almadani Navid, Totonchi Mehdi
Abstract excerpt
OBJECTIVE: The most severe type of male infertility is non-obstructive azoospermia (NOA), where there is no sperm in the ejaculate due to failure of spermatogenesis, affecting 10%-20% of infertile men with azoospermia. Genetic studies have identified dozens of NOA genes. The main aim of the present study is to identify a novel monogenic mutation that may cause NOA. MATERIALS AND METHODS: We studied the pedigree...
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