Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease-Reference-Cited by-同舟云学术

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Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease

Published:2014-11 Issue: Volume:68 Page:6-10
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Naot Dorit,Choi Ally,Musson David Shaun,Simsek Kiper Pelin Özlem,Utine Gulen Eda,Boduroglu Koray,Peacock Munro,DiMeglio Linda A.,Cundy Tim

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference16 articles.

1. Fragile bones and macrocranium;Bakwin;J Pediatr,1956

2. Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype;Chong;J Bone Miner Res,2003

3. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype;Cundy;Hum Mol Genet,2002

4. Osteoprotegerin deficiency and juvenile Paget's disease;Whyte;N Engl J Med,2002

5. Osteoclast differentiation and activation;Boyle;Nature,2003

Cited by 20 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. Paget’s disease: a review of the epidemiology, etiology, genetics, and treatment;Frontiers in Genetics;2023-04-26

2. Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management;Genes;2022-10-17

3. Mutations in the osteoprotegerin-encoding gene are associated with temporomandibular joint ankylosis;Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology;2021-08

4. Clinical course in two children with Juvenile Paget's disease during long-term treatment with intravenous bisphosphonates;Bone Reports;2021-06

5. Mutations in Profilin 1 Cause Early‐Onset Paget's Disease of Bone With Giant Cell Tumors;Journal of Bone and Mineral Research;2021-03-10

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