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HAJDU CHENEY SYNDROME, A DISEASE ASSOCIATED WITH NOTCH2 MUTATIONS
Notch plays an important function in skeletal homeostasis, osteoblastogenesis and osteoclastogenesis. Hajdu Cheney syndrome (HCS) is a rare disease associated with mutations in NOTCH2 leading to the translation of a truncated NOTCH2 stable protein. As a consequence, a gain-of-NOTCH2 function is mani...
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| Publicado no: | Curr Osteoporos Rep |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4927394/ https://ncbi.nlm.nih.gov/pubmed/27241678 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11914-016-0311-6 |
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