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 en:Bone
Main Authors: Giovanni, Adami, Maurizio, Rossini, Davide, Gatti, Giovanni, Orsolini, Luca, Idolazzi, Ombretta, Viapiana, Aldo, Scarpa, Ernesto, Canalis
Formato: Artigo
Idioma:Inglês
Publicado: 2016
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Article
Acceso en liña: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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