Article
BiallelicHFM1variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees
15 Apr 2022
Abstract excerpt
STUDY QUESTION: Do variants in helicase for meiosis 1 (HFM1) account for male infertility in humans? SUMMARY ANSWER: Biallelic variants in HFM1 cause human male infertility owing to non-obstructive azoospermia (NOA) with impaired crossover formation and meiotic metaphase I (MMI) arrest. WHAT IS KNOWN ALREADY: HFM1 encodes an evolutionarily conserved DNA helicase that is essential for crossover formation and...
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