Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu–Cheney syndrome-Reference-Cited by-同舟云学术

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Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu–Cheney syndrome

Published:2013-01 Issue:1 Volume:52 Page:366-371
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Stathopoulos Ioannis P.,Trovas George,Lampropoulou-Adamidou Kalliopi,Koromila Theodora,Kollia Panagoula,Papaioannou Nikolaos A.,Lyritis George

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference28 articles.

1. Further evidence that the Hajdu–Cheney syndrome and the “serpentine fibula-polycystic kidney syndrome” are a single entity;Ramos;Am J Med Genet,1998

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

3. Hajdu–Cheney syndrome associated with serpentine fibulae and polycystic kidney disease;Currarino;Pediatr Radiol,2009

4. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis;Isidor;Nat Genet,2011

5. Mutations in NOTCH2 cause Hajdu–Cheney syndrome, a disorder of severe and progressive bone loss;Simpson;Nat Genet,2011

Cited by 22 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: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report;Journal of Clinical Medicine;2022-09-02

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

3. 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

4. Hajdu Cheney Syndrome due to NOTCH2 defect – First case report from Pakistan and review of literature;Annals of Medicine and Surgery;2021-02

5. Hand Deformities in Hajdu-Cheney Syndrome: A Case Series of 3 Patients Across 3 Consecutive Generations;The Journal of Hand Surgery;2021-01

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