Last Posted: Jun 19, 2015
- Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Cai Tao, et al. Proceedings of the National Academy of Sciences of the United States of America 2015 6 (26) 8064-9
- Diastrophic dysplasia
From NCATS Genetic and Rare Diseases Information Center
- Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis.
Lamb Rebecca, et al. Arthritis and rheumatism 2007 4 (4) 1286-91
- Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia?
Remes Ville M, et al. European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 2002 8 (4) 327-31
- Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis.
Ikeda T, et al. Journal of human genetics 2001 0 (9) 538-43
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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