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Dyggve–Melchior–Clausen syndrome: Chondrodysplasia resulting from defects in intracellular vesicle traffic
Dyggve–Melchior–Clausen syndrome and Smith-McCort dysplasia are recessive spondyloepimetaphyseal dysplasias caused by loss-of-function mutations in dymeclin (Dym), a gene with previously unknown function. Here we report that Dym-deficient mice display defects in endochondral bone formation similar t...
שמור ב:
| Main Authors: | , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
National Academy of Sciences
2008
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2571016/ https://ncbi.nlm.nih.gov/pubmed/18852472 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0804259105 |
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