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

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

Abstract 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 bon...

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Bibliographic Details
Main Authors: James F. H. Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E. Fryer, Tim Cundy, William M. Drake, Melita D. Irving
Format: Article
Language:English
Published: BMC 2018-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Bisphosphonates
Diseases
Genetic disorders
Human studies
Dual energy x-ray absorptiometry (DEXA)
Online Access:http://link.springer.com/article/10.1186/s13023-018-0795-5

Internet

http://link.springer.com/article/10.1186/s13023-018-0795-5

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