Diverse monogenic subforms of human spermatogenic failure

Abstract excerpt

Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced classification of NOA subforms is not based on genetics, but simple description of testis histology. In this study, we exome-sequenced over 1000 clinically diagnosed NOA cases and identified a plausible recessive Mendelian cause in...

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