Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.

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Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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Atypical clinical presentation ...... a novel exon 6 gene mutation.

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Atypical clinical presentation ...... a novel exon 6 gene mutation.

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Atypical clinical presentation ...... a novel exon 6 gene mutation.

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P1476

Atypical clinical presentation ...... a novel exon 6 gene mutation.

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P2093

Marco Allinovi

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Pietro Dattolo

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Stefano Michelassi

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P2860

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.

WT1, renal development, and glomerulopathies.

GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7.

Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases.

Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome.

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

P31

scholarly article

case report

P356

10.1136/BCR-2013-009543

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P478

2013

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P50

Paraskevas Iatropoulos

P577

2013-05-27T00:00:00Z

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P5875

236958031

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P698

23715837

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P932

3669930

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