Phenotypic presentations of Hajdu-Cheney syndrome according to age – 5 distinct clinical presentations-Reference-Cited by-同舟云学术

Phenotypic presentations of Hajdu-Cheney syndrome according to age – 5 distinct clinical presentations

Published:2020-02 Issue:2 Volume:63 Page:103650
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Graversen Lise,Handrup Mette Møller,Irving Melita,Hove Hanne,Diness Birgitte Rode,Risom Lotte,Svaneby Dea,Aagaard Mads Malik^ORCID,Vogel Ida^ORCID,Gjørup Hans,Davidsen Michael,Hellfritzsch Michel Bach,Lauridsen Eva,Gregersen Pernille Axél

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference21 articles.

1. Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab;Adami;Bone,2016

2. Periodontitis associated with Hajdu-Cheney syndrome;Bazopoulou-Kyrkanidou;J. Periodontol.,2007

3. Hajdu--Cheney syndrome: evolution of phenotype and clinical problems;Brennan;Am. J. Med. Genet.,2001

4. Hajdu-Cheney syndrome: a review;Canalis;Orphanet J. Rare Dis.,2014

5. Hajdu-cheney syndrome, a disease associated with NOTCH2 mutations;Canalis;Curr. Osteoporos. Rep.,2016

Cited by 5 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. Exploratory use of romosozumab for osteoporosis in a patient with Hajdu–Cheney syndrome: a case report;Osteoporosis International;2023-01-09

2. Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report;Journal of Clinical Medicine;2022-09-02

3. Hajdu-Cheney Syndrome: Report of a Case in Spain;Diagnostics;2022-02-23

4. 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

5. A mutation in NOTCH2 gene first associated with Hajdu–Cheney syndrome in a Greek family: diversity in phenotype and response to treatment;Endocrine;2020-08-09