Diastrophic Dysplasia
What's New
Last Posted: Mar 15, 2023
- SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
Silveira Cynthia, et al. Molecular syndromology 2023 0 (6) 485-495 - Deciphering the mutational signature of congenital limb malformations.
Sun Liying, et al. Molecular therapy. Nucleic acids 2021 0 961-970 - 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
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 18, 2024
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