A mutation in NOTCH2 gene first associated with Hajdu–Cheney syndrome in a Greek family: diversity in phenotype and response to treatment
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s12020-020-02446-7.pdf
Reference26 articles.
1. E. Canalis, Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders. Metab. Clin. Exp. 80, 48–56 (2018).
2. J. Reichrath, S. Reichrath, Notch Pathway and Inherited Diseases: Challenge and Promise. Adv. Exp. Med. Biol 1218, 159–187 (2020).
3. Y. Narumi, B.J. Min, K. Shimizu, I. Kazukawa, K. Sameshima, K. Nakamura, T. Kosho, Y. Rhee, Y.S. Chung, O.H. Kim, Y. Fukushima, W.Y. Park, G. Nishimura, 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. Am. J. Med. Genet., Part A 161, 518–526 (2013).
4. E. Canalis, S. Zanotti, Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations. Curr. Osteoporos. Rep. 14, 126–131 (2016).
5. G. Adami, M. Rossini, D. Gatti, G. Orsolini, L. Idolazzi, O. Viapiana, A. Scarpa, E. Canalis, Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab. Bone. 92, 150–156 (2016).
Cited by 4 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. Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report;Bone Reports;2023-12
2. Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments;Annals of Medicine and Surgery;2021-11
3. Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab—A Rare Case Report;International Journal of Environmental Research and Public Health;2021-08-28
4. Correction to: A mutation in NOTCH2 gene first associated with Hajdu–Cheney syndrome in a Greek family: diversity in phenotype and response to treatment;Endocrine;2020-10-06
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