Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome-Reference-Cited by-同舟云学术

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Published:2016-09-20 Issue:10 Volume:31 Page:1845-1854
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Ramnitz Mary Scott¹,Gourh Pravitt²,Goldbach-Mansky Raphaela²,Wodajo Felasfa³,Ichikawa Shoji⁴,Econs Michael J⁴⁵,White Kenneth E⁵,Molinolo Alfredo¹,Chen Marcus Y⁶,Heller Theo⁷,Del Rivero Jaydira⁸,Seo-Mayer Patricia⁹,Arabshahi Bita¹⁰,Jackson Malaka B¹¹,Hatab Sarah¹²,McCarthy Edward¹³,Guthrie Lori C¹,Brillante Beth A¹,Gafni Rachel I¹,Collins Michael T¹

Affiliation:

1. Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch; National Institute of Dental and Craniofacial Research; National Institutes of Health; Bethesda MD USA

2. National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health; Bethesda MD USA

3. Musculoskeletal Tumor Surgery; Virginia Cancer Specialists; Fairfax VA USA

4. Department of Medicine; Indiana University School of Medicine; Indianapolis IN USA

5. Department of Medical and Molecular Genetics; Indiana University School of Medicine; Indianapolis IN USA

6. National Heart; Lung and Blood Institute; National Institutes of Health; Bethesda MD USA

7. National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health; Bethesda MD USA

8. National Cancer Institute; National Institutes of Health; Bethesda MD USA

9. Division of Nephrology and Hypertension; Pediatric Specialists of Virginia and Georgetown University School of Medicine; Fairfax VA USA

10. Department of Rheumatology; Pediatric Specialists of Virginia; Fairfax VA USA

11. Department of Pediatric Endocrinology; University of South Carolina School of Medicine; Columbia SC USA

12. Department of Pediatric Endocrinology; Emory University School of Medicine; Atlanta GA USA

13. Department of Pathology; Johns Hopkins Hospital; Baltimore MD USA

Funder

Division of Intramural Research of the NIDCR, NIH, DHHS

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference38 articles.

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2. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis;Topaz;Nat Genet,2004

3. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis;Ichikawa;J Musculoskelet Neuronal Interact,2007

4. Fibroblast growth factor 23: state of the field and future directions;Bhattacharyya;Trends Endocrinol Metab,2012

5. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation;Kato;J Biol Chem,2006

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