Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of plasmalogens, a specialized class of membrane phospholipids. Classically, patients have a skeletal dysplasia and profound mental retardation, although milder phenotypes are increasingly
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Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India
โ Scribed by S. R. Phadke; N. Gupta; K. M Girisha; M. Kabra; M. Maeda; E. Vidal; A. Moser; S. Steinberg; R. D. Puri; I. C. Verma; N. Braverman
- Publisher
- Springer-Verlag
- Year
- 2010
- Tongue
- English
- Weight
- 182 KB
- Volume
- 51
- Category
- Article
- ISSN
- 1234-1983
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## Abstract ## Background Type 1 diabetes (T1D) is characterised by loss of tolerance to betaโcell antigens, and the insulinโproducing betaโcells in the pancreatic islets are destroyed by the host's own immune system. Immunological risk factors associated with T1D are related to the defects in the