Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity-Reference-Cited by-同舟云学术

Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity

Published:2022-07-28 Issue:8 Volume:6 Page:
ISSN:2473-4039
Container-title:JBMR Plus
language:en
Short-container-title:JBMR Plus

Author:

Turan Serap¹^ORCID,Mumm Steven²³,Alavanda Ceren⁴,Kaygusuz Betul Sare¹,Gurpinar Tosun Busra¹,Arman Ahmet⁴,Huskey Margaret²,Guran Tulay¹,Duan Shenghui²,Bereket Abdullah¹,Whyte Michael P.²³^ORCID

Affiliation:

1. Pediatric Endocrinology and Diabetes Marmara University School of Medicine Başıbüyük Mah. Maltepe Başıbüyük Yolu Sok. No:9/2 Istanbul 34854 Türkiye

2. Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine St. Louis MO USA

3. Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children St. Louis MO USA

4. Medical Genetics Marmara University Faculty of Medicine Istanbul Turkey

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

Shriners Hospitals for Children

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbm4.10663

Reference52 articles.

1. Osteopetrosis

2. Die Dysosteosklerose — eine Sonderform der generalisierten Osteosklerose

3. Online Mendelian Inheritance in Man (OMIM).McKusick‐Nathans Institute of Genetic Medicine Johns Hopkins University (Baltimore MD) and National Center for Biotechnology Information National Library of Medicine (Bethesda MD) April 14 2021.https://www.omim.org

4. Dysosteosclerosis presents as an “Osteoclast-Poor” form of osteopetrosis: Comprehensive investigation of a 3-year-old girl and literature review

5. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

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1. A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review;BMC Medical Genomics;2024-07-04

2. Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND;European Journal of Medical Genetics;2024-06

3. Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy;Bone;2023-05

4. Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis;Bone;2023-02