ArticleFrontiers in reproductive health2025
Expanding the phenotypic spectrum associated with
Article in Frontiers in reproductive health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Aims: Multiple morphological abnormalities of the sperm flagella (MMAF) represents a rare and severe form of male infertility, characterized by defects in sperm flagella. Mutations in genes essential for flagellar function, such as Methods: Clinical assessment and semen analysis were conducted for two brothers presenting with infertility and chronic respiratory symptoms. Whole-exome sequencing (WES) was performed to identify potential genetic defects. Results: Both siblings exhibited classic MMAF features, including asthenospermia with various flagellar abnormalities, in addition to chronic respiratory symptoms including sinusitis and wet cough. WES identified a novel homozygous missense genetic variation in Conclusion: Our findings provide additional evidence of the genetic contribution of
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