Associated Papers
NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis.
Fukushima H et al.
Molecular Cell, 2017
The developmental biology of genetic Notch disorders.
Mašek J et al.
Development (cambridge, England), 2017
28512196 (PubMed )
Supplement: supplement_1.pdf
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.
Stathopoulos IP et al.
Bone, 2013
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
Simpson MA et al.
Nature Genetics, 2011
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