Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification-Reference-Cited by-同舟云学术

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification

Published:2013-05-21 Issue:6 Volume:28 Page:1378-1385
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Rafaelsen Silje Hjorth,Raeder Helge,Fagerheim Anne Kristine¹,Knappskog Per,Carpenter Thomas O²,Johansson Stefan,Bjerknes Robert

Affiliation:

1. Medical Department; Nordland County Hospital; Bodø; Norway

2. Departments of Pediatrics (Endocrinology) and Orthopaedics and Rehabilitation; Yale University School of Medicine; New Haven; CT; USA

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jbmr.1850/fullpdf

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2. Cloning characterization of FGF23 as a causative factor of tumor-induced osteomalacia;Shimada;Proc Natl Acad Sci U.S.A.,2001

3. Fibroblast growth factor 23 is a counter-regulatory phosphaturic hormone for vitamin D;Liu;J Am Soc Nephrol.,2006

4. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets;Francis;The HYP Consortium. Nat Genet.,1995

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