Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.

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作者： Tugba,Kalayci ^[1] ; Umut,Altunoglu ^[1] ; Aytul,Çorbacioglu Esmer ^[2] ; Şahin,Avcı ^[3] ; Tugba,Sarac Sivrikoz ^[1] ; Birsen,Karaman ^[2] ; İbrahim,Kalelioğlu ^[3] ; Recep,Has ^[1] ; Zehra Oya,Uyguner ^[3] ; Atıl,Yüksel ^[3] ; Seher,Başaran ^[1] ; Hülya,Kayserili ^[3]

作者单位： Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey. ^[1] Department of Medical Genetics, Koc University School of Medicine (KUSOM), Istanbul, Turkey. ^[2] Department of Obstetrics and Gynecology, Division of Perinatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey. ^[3]

关键词 fetal skeletal dysplasias limb hypoplasia-reduction defects nosology of skeletal dysplasias postmortem clinical examination prenatal diagnosis

主题词妊娠(Pregnancy);女(雌)性(Female);人类(Humans);骨疾病, 发育性(Bone Diseases, Developmental);土耳其(Turkey);骨软骨发育不良(Osteochondrodysplasias);成骨不全(Osteogenesis Imperfecta)

DOI 10.1002/ajmg.a.63050

PMID 36398383

发布时间 2023-02-21

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