Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
Svetlana A YatsenkoFatih GurbuzAli Kemal TopalogluAndrea J BermanPierre-Marie MartinMarta Rodrigue-EscribàYingying QinAleksandar RajkovicPublished in: The Journal of clinical endocrinology and metabolism (2022)
Our study highlights the pivotal role of the ZSWIM7 gene involved in DNA damage response during meiosis on ovarian development and function. Characterization of patients with defects in DNA repair genes has important diagnostic and prognostic consequences for clinical management and reproductive decisions.