A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.

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作者： Mohammad,Al-Haggar ^[1] ; Ashraf,Bakr ^[2] ; Yahya,Wahba ^[1] ; Paul J,Coucke ^[3] ; Fatma,El-Hussini ^[4] ; Mona,Hafez ^[5] ; Riham,Eid ^[2] ; Abdel-Rahman,Eid ^[1] ; Amr,Sarhan ^[2] ; Ali,Shaltout ^[1] ; Ayman,Hammad ^[1] ; Sohier,Yahia ^[1] ; Ahmad,El-Rifaie ^[2] ; Dina,Abdel-Hadi ^[1]

作者单位： Department of Pediatrics, Genetics Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt. ^[1] Nephrology Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt. ^[2] Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. ^[3] Department of Pathology and Department of Pediatrics, Mansoura University, Mansoura, Egypt. ^[4] Cardiology Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt. ^[5]

主题词青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);肾小球硬化症, 局灶节段性(Glomerulosclerosis, Focal Segmental);遗传(Heredity);人类(Humans);男(雄)性(Male);马凡综合征(Marfan Syndrome);中年人(Middle Aged);突变(Mutation);肾病综合征(Nephrotic Syndrome);系谱(Pedigree);表型(Phenotype);危险因素(Risk Factors);青年人(Young Adult)

DOI 10.4103/1319-2442.198166

PMID 28098115

发布时间 2019-08-13

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Saudi journal of kidney diseases and transplantation

141-148页

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A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.

Saudi journal of kidney diseases and transplantation

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Saudi journal of kidney diseases and transplantation

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A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.

Saudi journal of kidney diseases and transplantation

相似文献

Saudi journal of kidney diseases and transplantation

相关期刊

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