A Novel Splice Mutation inPLS3Causes X-linked Early Onset Low-Turnover Osteoporosis

Author:

Laine Christine M12,Wessman Maija13,Toiviainen-Salo Sanna4,Kaunisto Mari A13,Mäyränpää Mervi K45,Laine Tero6,Pekkinen Minna1,Kröger Heikki7,Välimäki Ville-Valtteri8,Välimäki Matti J9,Lehesjoki Anna-Elina11011,Mäkitie Outi151213

Affiliation:

1. Folkhälsan Institute of Genetics; Helsinki Finland

2. Department of Endocrinology, Institute of Medicine; Sahlgrenska University Hospital and University of Gothenburg; Gothenburg Sweden

3. Institute for Molecular Medicine Finland; University of Helsinki; Helsinki Finland

4. Department of Pediatric Radiology; Helsinki Medical Imaging Center; Helsinki Finland

5. Children's Hospital; Helsinki University Central Hospital and University of Helsinki; Helsinki Finland

6. Department of Pediatric Orthopedic Surgery, Institute of Clinical Sciences; Sahlgrenska University Hospital and University of Gothenburg; Gothenburg Sweden

7. Bone and Cartilage Research Unit; University of Eastern Finland and Kuopio University Hospital; Kuopio Finland

8. Department of Orthopaedics and Traumatology; University of Helsinki and Helsinki University Central Hospital; Helsinki Finland

9. Division of Endocrinology, Department of Medicine; Helsinki University Central Hospital; Helsinki Finland

10. Haartman Institute; Department of Medical Genetics and Research Program's Unit, Molecular Neurology, University of Helsinki; Helsinki Finland

11. Neuroscience Center; University of Helsinki; Helsinki Finland

12. Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden

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

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference34 articles.

1. NIH Consensus Development Panel on Osteoporosis Prevention, Diagnosis, and Therapy. Osteoporosis prevention, diagnosis, therapy;JAMA.,2001

2. Role of genetic factors in the pathogenesis of osteoporosis;Stewart;J Endocrinol.,2000

3. Osteogenesis imperfecta-clinical and molecular diversity;Roughley;Eur Cell Mater.,2003

4. Idiopathic juvenile osteoporosis: experience of twenty-one patients;Smith;Br J Rheumatol.,1995

5. PPIB mutations cause severe osteogenesis imperfecta;van Dijk;Am J Hum Genet.,2009

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