Associated Papers
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
Pittaway JFH et al.
Orphanet Journal of Rare Diseases, 2018
A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.
Gu JM et al.
Joint Bone Spine, 2013
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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