Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

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作者： Leyli,Senturk ^[1] ; Cagri,Gulec ^[1] ; Tugba,Sarac Sivrikoz ^[2] ; Hulya,Kayserili ^[1] ; Ibrahim Halil,Kalelioglu ^[3] ; Sahin,Avci ^[2] ; Recep,Has ^[1] ; Paul,Coucke ^[3] ; Tugba,Kalayci ^[2] ; Bernd,Wollnik ^[4] ; Birsen,Karaman ^[1] ; Guven,Toksoy ^[5] ; Sofie,Symoens ^[1] ; Gokhan,Yigit ^[6] ; Atil,Yuksel ^[1] ; Seher,Basaran ^[4] ; Beyhan,Tuysuz ^[5] ; Umut,Altunoglu ^[2] ; Zehra Oya,Uyguner ^[1]

作者单位： Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. ^[1] Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. ^[2] Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey. ^[3] Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. ^[4] Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany. ^[5] Institute of Child Health, Department of Pediatric Basic Sciences, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. ^[6] Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical School, Istanbul, Turkey. ^[7]

关键词 FKBP10 Genetic counseling IFITM5 Lethal osteogenesis imperfecta Osteogenesis imperfecta P3H1