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PTHR1 mutations associated with Ollier disease result in receptor loss of function
PTHR1-signaling pathway is critical for the regulation of endochondral ossification. Thus, abnormalities in genes belonging to this pathway could potentially participate in the pathogenesis of Ollier disease/Maffucci syndrome, two developmental disorders defined by the presence of multiple enchondro...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Oxford University Press
2008
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2722890/ https://ncbi.nlm.nih.gov/pubmed/18559376 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn176 |
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