A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome
Author:
Publisher
Elsevier BV
Subject
Rheumatology
Reference15 articles.
1. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis;Isidor;Nat Genet,2011
2. Mutations in NOTCH2 in families with Hajdu-Cheney syndrome;Majewski;Hum Mutat,2011
3. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss;Simpson;Nat Genet,2011
4. A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome;Gu;Joint Bone Spine,2013
5. Hadju-Cheney syndrome: response to therapy with bisphosphonates in two patients;Drake;J Bone Miner Res,2003
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Acro-osteólisis, hallazgos de imagen y posibles diagnósticos etiológicos;Revista Clínica de Medicina de Familia;2023-10-15
2. Surgical management of high-grade lumbar spondylolisthesis associated with Hajdu-Cheney syndrome: illustrative case;Journal of Neurosurgery: Case Lessons;2022-08-15
3. Hajdu Cheney Syndrome due to NOTCH2 defect – First case report from Pakistan and review of literature;Annals of Medicine and Surgery;2021-02
4. Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis;Joint Bone Spine;2019-07
5. Acroosteolysis in Systemic Sclerosis;The American Journal of the Medical Sciences;2019-02
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