Autosomal Recessive Alport Syndrome
Last Posted: Nov 15, 2019
- Alport Syndrome in Women and Girls.
Savige Judy et al. Clinical journal of the American Society of Nephrology : CJASN 2016 11(9) 1713-20
- Mutations in the COL4A4 gene in thin basement membrane disease.
Buzza Mark, et al. Kidney international 2003 2 (2) 447-53
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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