Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified
Karakaya C, Çil AP, Bilguvar K, Çakir T, Karalok MH, Karabacak RO, Caglayan AO. Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified. Journal Of Obstetrics And Gynaecology Research 2022, 48: 1202-1211. PMID: 35141985, PMCID: PMC9050819, DOI: 10.1111/jog.15187.Peer-Reviewed Original ResearchConceptsPolycystic ovary syndromeWhole-exome sequencingFurther functional studiesMissense variantsNew drug targetsGerm-line DNAWhole-exome sequencing dataThree-dimensional structurePolycystic ovary syndrome patientsFunctional predictionChemogenomic analysisCandidate proteinsSequencing dataBiological pathwaysDrug targetsFunctional studiesCandidate variantsSequencingPCOS familiesRotterdam criteriaOvary syndromeFBN3Syndrome patientsPathwayPCOS probands