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SMN1 heterozygosity is associated with decreased aneuploidy rates

SMN1 heterozygosity is associated with decreased aneuploidy rates
Spinal muscular atrophy (SMA), a neuromuscular disorder caused by biallelic mutations in the survival of motor neuron 1 (SMN1) gene. Patients with neuromuscular disorders demonstrate impaired responsiveness to controlled ovarian hyperstimulation1. In a mouse model, SMN1 mutation was associated with reduced testis size and impaired spermatogenesis, but no difference was shown in ovarian size or function2. The objective of this study was to examine the ovarian reserve and ART outcomes of SMN1 mutation carriers.
Source: fertstert.org

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