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HAJDU CHENEY SYNDROME; REPORT OF A NOVEL NOTCH2 MUTATION AND TREATMENT WITH DENOSUMAB
Notch receptors play a central role in skeletal development and homeostasis. Hajdu Cheney Syndrome (HCS) is a rare disease associated with mutations of NOTCH2 that lead to the translation of a truncated, presumably stable, NOTCH2 protein. As a consequence, a gain-of-NOTCH2 function is manifested. We...
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| Publicado no: | Bone |
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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/PMC5056853/ https://ncbi.nlm.nih.gov/pubmed/27592446 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2016.08.025 |
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