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A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome
(SPRINGER, 2011)
WT1 mutations have been described in a variety of syndromes, including Denys-Drash syndrome (DDS), which is characterized by predisposition to Wilms` tumor, genital abnormalities and development of early nephropathy. The ...
The Novel WT1 Gene Mutation p.H377N Associated to Denys-Drash Syndrome
(Lippincott Williams & Wilkins, 2010-08-01)
Denys-Drash syndrome (DDS, Online Mendelian Inheritance in Man number 194080) is a rare human developmental disease generally occurring in 46,XY individuals characterized by the combination of disorder of sex development, ...
The Novel WT1 Gene Mutation p.H377N Associated to Denys-Drash Syndrome
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2010)
Clinical and genetic findings of five patients with WT1-related disordersAchados clínicos e genéticos de cinco pacientes com anomalias relacionadas ao gene WT1
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis
(Associação Brasileira de Divulgação Científica, 2005)
Nphs2 Mutations Account For Only 15% Of Nephrotic Syndrome Cases
(BioMed Central Ltd., 2015)