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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Orphanet J Rare Dis |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5885380/ https://ncbi.nlm.nih.gov/pubmed/29618366 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0795-5 |
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