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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Pittaway, James F. H., Harrison, Christopher, Rhee, Yumie, Holder-Espinasse, Muriel, Fryer, Alan E., Cundy, Tim, Drake, William M., Irving, Melita D.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados