eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | chst3-related skeletal dysplasia |
| Comorbidity | C0038015|spondyloepiphyseal dysplasia |
| Sentences | 1 |
| PubMedID- 22539336 | More recently, chst3 (carbohydrate (chondroitin 6) sulfotransferase 3) mutations, involved in spondyloepiphyseal dysplasia with congenital joint dislocations [sdcd; mim# 143095], which shares some features with dd including multiple dislocations and joint hyperlaxity, have been reported in one case of dd type 2 [unger et al., 2010]. |
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