نتایج جستجو برای: wolfram syndrome
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BACKGROUND Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene (WFS1). However, the phenotypic pleiomorphism, rarity and molecular complexity of...
Background: Microcephaly is a condition that causes reduction in brain volume as well cognitive and motor impairments. It can be seen alone or conjunction with variety of genetic disorders environmental factors. still poorly defined condition, identifying the etiological critical for providing counseling, preventing potential consequences. Objective: The aim this study was to assess etiology, d...
Thank you very much for your letter and we greatly appreciate your efforts to have the manuscript ‘A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome : a case report’ (ID: BPED-D-17-00294) reviewed. Additionally, we would also like to thank the reviewers for the helpful and constructive comments. Those comments are all valuable and very helpful for revising and improving o...
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