Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab
Author:
Publisher
Elsevier BV
Subject
Histology,Physiology,Endocrinology, Diabetes and Metabolism
Reference35 articles.
1. Hajdu-Cheney syndrome: a review;Canalis;Orphanet J. Rare Dis.,2014
2. Hajdu-Cheney syndrome, a disease associated with NOTCH2 mutations;Canalis;Curr. Osteoporos. Rep.,2016
3. Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation;Descartes;Clin. Dysmorphol.,2014
4. Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome;Gray;Eur. J. Hum. Genet.,2012
5. Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2;Isidor;Hum. Mutat.,2011
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