Mechanistic and therapeutic insights gained from studying rare skeletal diseases

Abstract Rare bone diseases account for 5% of all birth defects and can cause significant morbidity throughout patients' lives. Significant progress is being made to elucidate the pathophysiological mechanisms underlying these diseases. This paper summarizes presentation highlights of a worksho...

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Bibliographic Details
Published in:	Bone (New York, N.Y.) Vol. 76; pp. 67 - 75
Main Authors:	Tosi, Laura L, Warman, Matthew L
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-07-2015
Subjects:	Bone Diseases - physiopathology Bone Diseases - therapy Humans Nosology Orthopedics Pathophysiology Rare bone diseases Rare Diseases - physiopathology Rare Diseases - therapy Therapeutics Transcription, Genetic Nosology Pathophysiology Rare bone diseases Therapeutics
Online Access:	Get full text
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Summary:	Abstract Rare bone diseases account for 5% of all birth defects and can cause significant morbidity throughout patients' lives. Significant progress is being made to elucidate the pathophysiological mechanisms underlying these diseases. This paper summarizes presentation highlights of a workshop on Rare Skeletal Diseases convened to explore how the study of rare diseases has influenced the field's understanding of bone anabolism and catabolism and directed the search for new therapies benefiting patients with rare conditions as well as patients with common skeletal disorders.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	8756-3282 1873-2763
DOI:	10.1016/j.bone.2015.03.016