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Article

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

Journal of medical genetics - 1 Aug 2002

Fukuzawa R, Sakamoto J, Heathcott R W, Hata J-I

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12161615
DOI: 10.1136/jmg.39.8.e48
PMCID: PMC1735197

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7.PMID 12161615Read ↗

Atypical presentation of Denys-Drash syndrome in a female with a novel Wt1 gene mutation.Semantic proximity Read ↗

Clinical features and an atypical WT1 mutant site in a child with incomplete Denys-Drash syndrome.Semantic proximity Read ↗

Denys-Drash syndrome: Relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1Semantic proximity Read ↗

WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion.Semantic proximity Read ↗

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

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthoodSemantic proximity Read ↗

Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.Semantic proximity Read ↗

Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.Semantic proximity Read ↗

Congenital diaphragmatic eventration with pulmonary dysplasia in Frasier syndrome due to a WT1 mutation of c.1432+5(IVS9)G>A.Semantic proximity Read ↗

WT1 exon 10 missense variant in a pediatric patient with focal segmental glomerulosclerosis with embryonal hyperplasia.Semantic proximity Read ↗

A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male.Semantic proximity Read ↗

New Syndrome Associated with Germline Variants in TRAF7.Semantic proximity Read ↗

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