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Omani type Spondyloepiphyseal dysplasia

mutations in CHST3
Also Known As:
Spondyloepiphyseal dysplasia, Omani type; CHST3-Related Skeletal Dysplasia; Chondrodysplasia with Multiple Dislocations; Humero-Spinal Dysostosis; Humero-spinal dysostosis with congenital heart disease; Humerospinal dysostosis; Kozlowski Celermajer Tink syndrome; Omani type of spondyloepiphyseal dysplasia; SED with Luxations, CHST3 Type; SED, Omani Type; Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations; Spondyloepiphyseal Dysplasia, CHST3-Related
Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Larsen Syndrome
2. Joint Dislocations

Experts

1. Rossi, Antonio: 3 articles (08/2012 - 06/2008)
2. Sillence, David: 2 articles (08/2012 - 10/2010)
3. Bonafé, Luisa: 2 articles (10/2010 - 06/2008)
4. Reicherter, Kerstin: 2 articles (10/2010 - 06/2008)
5. Spranger, Jürgen: 2 articles (10/2010 - 06/2008)
6. Superti-Furga, Andrea: 2 articles (10/2010 - 06/2008)
7. Unger, Sheila: 2 articles (10/2010 - 06/2008)
8. Zabel, Bernhard: 2 articles (10/2010 - 06/2008)
9. Albuz, Burcu: 1 article (01/2020)
10. Anlaş, Özlem: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Omani type Spondyloepiphyseal dysplasia:
1. SulfotransferasesIBA
2. ChondroitinIBA
3. Carbohydrate SulfotransferasesIBA
4. Nonsense Codon (Nonsense Mutation)IBA
5. CarbohydratesIBA