Associated Papers
Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.
Ahmed S et al.
Annals of Medicine and Surgery (2012), 2021
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.
Descartes M et al.
Clinical Dysmorphology, 2014
A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.
Gu JM et al.
Joint Bone Spine, 2013
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.
Zhao W et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 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
Select a paper to view details