Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.-论文-万方医学网

第一作者： Pelin,Ercoskun

第一单位： Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.

作者： Pelin,Ercoskun ^[1] ; Aydeniz,Aydin Gumus ^[1] ; Ezgi,Gokpinar Ili ^[2] ; Lale,Yilmaz Celik ^[1] ; Mustafa,Dogan ^[1] ; Sevgi,Yavuz ^[3] ; Gursel,Yildiz ^[4] ; Alper,Gezdirici ^[1]

作者单位： Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey. ^[1] Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.;Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey. ^[2] Department of Pediatric Nephrology, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey. ^[3] Department of Nephrology, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey. ^[4]

主题词人类(Humans);女(雌)性(Female);男(雄)性(Male);土耳其(Turkey);遗传关联研究(Genetic Association Studies);突变(Mutation);成年人(Adult);多囊肾, 常染色体显性(Polycystic Kidney, Autosomal Dominant);儿童(Child);青少年(Adolescent);表型(Phenotype);TRPP阳离子通道(TRPP Cation Channels);儿童, 学龄前(Child, Preschool);青年人(Young Adult);肾(Kidney);队列研究(Cohort Studies);中年人(Middle Aged);眼畸形(Eye Abnormalities);婴儿(Infant);纤毛运动障碍(Ciliary Motility Disorders);脑膨出(Encephalocele);多囊肾疾病(Polycystic Kidney Diseases);色素性视网膜炎(Retinitis Pigmentosa)

DOI 10.1111/cge.14687

PMID 39731278

发布时间 2025-04-06

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Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Clinical genetics

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Clinical genetics

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Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Clinical genetics

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Clinical genetics

相关期刊

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