一例具有新突变和维生素d缺乏的weill-marchesani综合征

Journal of Clinical and Analytical Medicine Pub Date : 2018-11-01 DOI:10.4328/JCAM.5718

M. Yıldırım

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引用次数: 0

摘要

1 Malik Ejder Yıldırım1, ay Vural2, Hande k k Kurtulgan1, Hasan Kılıçgün3, Burak ba 1 1 Cumhuriyet大学医学院医学遗传学系，2 Cumhuriyet大学医学院眼科学系，3 Erzincan大学健康科学学院营养与饮食学系，Erzincan，土耳其1例weill-marchesani综合征1例weill-marchesani综合征伴新突变和维生素d缺乏症

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A case of weill-marchesani syndrome with a novel mutation and vitamin d deficiency

1 Malik Ejder Yıldırım1, Ayşe Vural2, Hande Küçük Kurtulgan1, Hasan Kılıçgün3, Burak Başer1 1Department of Medical Genetics, Cumhuriyet University, Faculty of Medicine, Sivas, 2Department of Ophthalmology, Cumhuriyet University, Faculty of Medicine, Sivas, 3 Department of Nutrition and Dietetics, Erzincan University, Faculty of Health Sciences, Erzincan, Turkey A case of weill-marchesani syndrome A case of weill-marchesani syndrome with a novel mutation and vitamin d deficiency

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Journal of Clinical and Analytical Medicine MEDICINE, GENERAL & INTERNAL-

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期刊介绍： The Annals of Clinical and Analytical Medicine is an international open-access journal containing peer-reviewed high-quality articles on clinical medicine in the areas of all research study types, reviews, and case reports. Our journal has become an important platform with the help of language support services, which make it easier for writers who have English as their second language to share their clinical experiences with the world.