Atypical Femoral Fracture in Osteoporosis Pseudoglioma Syndrome Associated with Two Novel Compound Heterozygous Mutations inLRP5-Reference-Cited by-同舟云学术

Atypical Femoral Fracture in Osteoporosis Pseudoglioma Syndrome Associated with Two Novel Compound Heterozygous Mutations inLRP5

Published:2015-03-25 Issue:4 Volume:30 Page:615-620
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Alonso Nerea¹,Soares Dinesh C²,V McCloskey Eugene³,Summers Gregory D⁴,Ralston Stuart H¹,Gregson Celia L⁵

Affiliation:

1. Rheumatic Diseases Unit; Centre for Genomic and Experimental Medicine; MRC Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburgh UK

2. MRC Human Genetics Unit and Centre for Genomic and Experimental Medicine; MRC Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburgh UK

3. Academic Unit of Bone Metabolism; Centre for Biomedical Research; Northern General Hospital; Sheffield UK

4. Department of Rheumatology; Derby Hospitals NHS Foundation Trust; Derby UK

5. Musculoskeletal Research Unit; School of Clinical Sciences; University of Bristol; Bristol UK

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference65 articles.

1. Atypical subtrochanteric and diaphyseal femoral fractures: second report of a task force of the American Society for Bone and Mineral Research;Shane;J Bone Miner Res.,2014

2. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development;Gong;Cell.,2001

3. Autosomal recessive syndrome of pseudogliomantous blindness, osteoporosis and mild mental retardation;Neuhauser;Clin Genet.,1976

4. Congenital blindness and osteoporosis-pseudoglioma syndrome;Lee;JAAPOS.,2003

5. Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview;Frontali;Am J Med Genet.,1985

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