PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization-Reference-Cited by-同舟云学术

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

Published:2017-09-06 Issue:12 Volume:32 Page:2394-2404
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Kämpe Anders J¹,Costantini Alice¹,Levy-shraga Yael²³,Zeitlin Leonid⁴,Roschger Paul⁵,Taylan Fulya¹,Lindstrand Anna¹⁶,Paschalis Eleftherios P⁵,Gamsjaeger Sonja⁵,Raas-Rothschild Annick⁷,Hövel Matthias⁸,Jiao Hong⁹,Klaushofer Klaus⁵,Grasemann Corinna¹⁰,Mäkitie Outi¹⁶¹¹¹²

Affiliation:

1. Department of Molecular Medicine and Surgery and Center for Molecular Medicine; Karolinska Institutet; Stockholm Sweden

2. Pediatric Endocrinology Unit; Edmond and Lily Safra Children's Hospital; Sheba Medical Center Tel-Hashomer Israel

3. Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

4. Pediatric Orthopedic Department; Dana-Dwek Children's Hospital, Tel Aviv Sourasly Medical Center; Tel Aviv Israel

5. Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling; 1st Medical Department; Hanusch Hospital Vienna Austria

6. Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden

7. Institute for Rare Diseases; The Danek Gertner Institute of Human Genetics; Sheba Medical Center Tel-Hashomer Israel

8. Department of Orthopedics and Trauma Surgery; University Hospital Essen and the University of Duisburg-Essen; Essen Germany

9. Department of Biosciences and Nutrition; and Science for Life Laboratory; Karolinska Institutet; Stockholm Sweden

10. Klinik für Kinderheilkunde II; University Hospital Essen and the University of Duisburg-Essen; Essen Germany

11. Children's Hospital; University of Helsinki and Helsinki University Hospital; Helsinki Finland

12. Folkhälsan Institute of Genetics and University of Helsinki; Helsinki; Finland

Funder

Bone Material Laboratory of the Ludwig Boltzmann Institute of Osteology

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jbmr.3233/fullpdf

Reference50 articles.

1. PLS3 mutations in X-linked osteoporosis with fractures;van Dijk;N Engl J Med,2013

2. A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis;Laine;J Bone Miner Res,2015

3. Idiopathic juvenile osteoporosis;Krassas;Ann N Y Acad Sci,2000

4. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment;Van Dijk;Am J Med Genet A,2014

5. Recessive osteogenesis imperfecta caused by missense mutations in SPARC;Mendoza-Londono;Am J Hum Genet,2015

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