Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.

Autor: Karakaya C; Department of Medical Biochemistry, Gazi University School of Medicine, Ankara, Turkey.; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale School of Medicine, New Haven, Connecticut, USA., Çil AP; American Hospital Women's Health and Assisted Reproductive Center Guzelbahce Sok, İstanbul, Turkey., Bilguvar K; Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA.; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Department of Medical Genetics, Acibadem University School of Medicine, Istanbul, Turkey., Çakir T; Department of Bioengineering, Gebze Technical University, Gebze, Turkey., Karalok MH; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale School of Medicine, New Haven, Connecticut, USA., Karabacak RO; Department of Obstetrics and Gynecology, Gazi University Faculty of Medicine, Ankara, Turkey., Caglayan AO; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Department of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey.; Department of Molecular Medicine, Institute of Health Sciences, Dokuz Eylul University, Izmir, Turkey.

Publikováno v: The journal of obstetrics and gynaecology research [J Obstet Gynaecol Res] 2022 May; Vol. 48 (5), pp. 1202-1211. Date of Electronic Publication: 2022 Feb 09.