Article
Osteogenesis imperfecta: diagnosis and treatment.
Current opinion in endocrinology, diabetes, and obesity - 1 Dec 2017
Palomo Telma, Vilaça Tatiane, Lazaretti-Castro Marise
Abstract excerpt
PURPOSE OF REVIEW: Here we summarize the diagnosis of osteogenesis imperfecta, discuss newly discovered genes involved in osteogenesis imperfecta, and review the management of this disease in children and adults. RECENT FINDINGS: Mutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis imperfecta. In the past 10 years, defects in at least 17 other genes...
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