Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes.
作者信息
Koziell A B, Grundy R, Barratt T M, Scambler P
出版信息
Am J Hum Genet. 1999 Jun;64(6):1778-81. doi: 10.1086/302409.
Abstract
摘要
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Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes.与迪尼斯-德拉斯综合征和弗雷泽综合征相关的肾病表型遗传异质性的证据。
Am J Hum Genet. 1999 Jun;64(6):1778-81. doi: 10.1086/302409.
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Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?弗雷泽综合征和迪尼-德拉斯综合征：不同的疾病还是谱系的一部分？
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Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1.迪尼-德拉斯综合征点突变对肾母细胞瘤抑制蛋白WT1的DNA结合活性的影响。
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Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome.
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A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome.在无泌尿生殖系统异常的散发性肾母细胞瘤中，WT1基因发现的一个点突变与Denys-Drash综合征中最常见的点突变相同。
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Inherited WT1 mutation in Denys-Drash syndrome.迪尼-德拉斯综合征中的遗传性WT1突变。
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[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report].[WT1突变作为弗雷泽综合征进行性肾病的病因——病例报告]
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Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.病例报告：一名患有迪尼斯-德拉斯综合征的患者出现WT1基因外显子6截断突变及生殖器模糊不清的情况。
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Distinct molecular origins for Denys-Drash and Frasier syndromes.Denys-Drash综合征和Frasier综合征的不同分子起源。
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