Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review

BACKGROUND: Hajdu-Cheney syndrome (HCS) (#OMIM 102500) is a rare, autosomal dominant condition that presents in early childhood. It is caused by mutations in the terminal exon of NOTCH2, which encodes the transmembrane NOTCH2 receptor. This pathway is involved in the coupled processes of bone format...

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Detalles Bibliográficos
Autores principales: Pittaway, James F. H., Harrison, Christopher, Rhee, Yumie, Holder-Espinasse, Muriel, Fryer, Alan E., Cundy, Tim, Drake, William M., Irving, Melita D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885380/
https://www.ncbi.nlm.nih.gov/pubmed/29618366
http://dx.doi.org/10.1186/s13023-018-0795-5

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