Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations-Reference-Cited by-同舟云学术

Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations

Published:2018-09-14 Issue:1 Volume:34 Page:145-156
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Jha Smita¹²,Fratzl‐Zelman Nadja³,Roschger Paul³,Papadakis Georgios Z⁴⁵,Cowen Edward W⁶,Kang Heeseog⁷,Lehky Tanya J⁸,Alter Katharine⁹,Deng Zuoming¹⁰,Ivovic Aleksandra¹¹,Flynn Lauren¹²,Reynolds James C¹³,Dasgupta Abhijit¹⁴,Miettinen Markku¹⁵,Lange Eileen¹⁶,Katz James¹⁶,Klaushofer Klaus³,Marini Joan C⁷,Siegel Richard M¹¹,Bhattacharyya Timothy¹

Affiliation:

1. Clinical and Investigative Orthopedics Surgery UnitNational Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)National Institutes of Health (NIH)BethesdaMDUSA

2. Program in Reproductive and Adult EndocrinologyEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)National Institutes of Health (NIH)BethesdaMDUSA

3. Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of Vienna Regional Health Insurance Fund (WGKK)and Allgemeine Unfallversicherungsanstalt (AUVA; the Austrian Workers’ Compensation Board) Trauma Center Meidling1st Medical Department Hanusch HospitalViennaAustria

4. Foundation for Research and Technology Hellas (FORTH)Institute of Computer Science (ICS)Computational Bio‐Medicine Laboratory (CBML)HeraklionCreteGreece

5. National Institute of Dental and Craniofacial Research (NIDCR)National Institutes of Health (NIH)BethesdaMDUSA

6. Dermatology BranchNational Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)National Institutes of Health (NIH)BethesdaMDUSA

7. Section on Heritable Disorders of Bone and Extracellular MatrixNational Institute of Child Health and Human Development (NICHD)National Institutes of Health (NIH)BethesdaMDUSA

8. Electromyography (EMG) SectionNational Institutes of Neurological Disorders and Stroke (NINDS)National Institutes of Health (NIH)BethesdaMDUSA

9. Functional and Applied Biomechanics SectionRehabilitation Medicine DepartmentNational Institutes of Health (NIH)BethesdaMDUSA

10. Biodata Mining and Discovery SectionOffice of Science and TechnologyNational Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)National Institutes of Health (NIH)BethesdaMDUSA

11. Immunoregulation SectionAutoimmunity BranchNational Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)National Institutes of Health (NIH)BethesdaMDUSA

12. National Institutes of Neurological Disorders and Stroke (NINDS)National Institutes of Health (NIH)BethesdaMDUSA

13. Nuclear Medicine DivisionRadiology and Imaging SciencesNational Institutes of Health (NIH) Clinical CenterBethesdaMDUSA

14. Clinical Trials and Outcomes BranchNational Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)National Institutes of Health (NIH)BethesdaMDUSA

15. Surgical PathologyLaboratory of PathologyNational Cancer Institute (NCI)National Institutes of Health (NIH)BethesdaMDUSA

16. Office of the Clinical DirectorNational Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)National Institutes of Health (NIH)BethesdaMDUSA

Funder

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.3577

Reference22 articles.

1. GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders

2. [An undescribed assignment of bones: hyperostosis “in the course of the whole length of a limb or melorheostosis”] Une affecttion non decrite des os: hyperostose “en coulee sue toute la longeur d'un member ou melorheostose;Leri A;Bull Mem Soc Med Hop Paris,1922

3. Melorheostosis in a Prehistoric Alaskan Skeleton

4. Melorheostosis: a review of 23 cases

5. Somatic activating mutations in MAP2K1 cause melorheostosis

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