Article
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
Human genetics - 1 Jan 2021
Salas-Huetos Albert, Tüttelmann Frank, Wyrwoll Margot J, Kliesch Sabine, Lopes Alexandra M, Goncalves João, Boyden Steven E, Wöste Marius, Hotaling James M, Nagirnaja Liina, Conrad Donald F, Carrell Douglas T, Aston Kenneth I
Abstract excerpt
Non-obstructive azoospermia (NOA), the lack of spermatozoa in semen due to impaired spermatogenesis affects nearly 1% of men. In about half of cases, an underlying cause for NOA cannot be identified. This study aimed to identify novel variants associated with idiopathic NOA. We identified a nonconsanguineous family in which multiple sons displayed the NOA phenotype. We performed whole-exome sequencing in three...
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