Last Posted: Mar 23, 2016
- Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome.
Yang Y, et al. Genetics and molecular research : GMR 2016 0 (1)
- Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome.
Yang Y H, et al. Genetics and molecular research : GMR 2013 0 (4) 6184-91
- Frasier syndrome
From NCATS Genetic and Rare Diseases Information Center
- WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.
Aucella Filippo, et al. Pediatric nephrology (Berlin, Germany) 2006 10 (10) 1393-8
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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