Variations of C14ORF39 and SYCE1 identified in idiopathic premature ovarian insufficiency and nonobstructive azoospermia.
Dong HouChencheng YaoBingying XuWei LuoHanni KeZheng LiYingying QinTing GuoPublished in: The Journal of clinical endocrinology and metabolism (2021)
Our study identified novel pathogenic variations of C14ORF39 and SYCE1 in sporadic patients with POI or NOA, highlighting the essential role of SC genes in the maintenance of ovarian and testicular function.