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
The developmental biology of genetic Notch disorders.
Mašek J et al.
Development (cambridge, England), 2017
Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab.
Adami G et al.
Bone, 2016
A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome.
Deprouw C et al.
Joint Bone Spine, 2015
A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.
Gu JM et al.
Joint Bone Spine, 2013
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
Narumi Y et al.
American Journal of Medical Genetics. Part A, 2013
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.
Stathopoulos IP et al.
Bone, 2013
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
Majewski J et al.
Human Mutation, 2011
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