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Lookup NU author(s): Dr Harish Datta,
Dr Stephen Tuck
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© 2021, International Osteoporosis Foundation and National Osteoporosis Foundation.Introduction: Osteogenesis imperfecta (OI) is a rare disorder with variable clinical presentation, commonly caused by mutations in collagen type I genes. OI affects both bone quality and density resulting in fractures and deformity. The effectiveness of bisphosphonates in the treatment of adult OI remains unclear. Small, randomised trials have shown increases in BMD, but without fracture rate reduction. Aim: We report the results of BMD of a family harbouring C 613 C>G substitution in exon 8 of Col1A1 gene leading to Pro205Ala missense variant, as well as the results of long term treatment of a mother and daughter with this mutation.
Author(s): Datta HK, Vila J, Tuck SP
Publication type: Article
Publication status: Published
Journal: Osteoporosis International
Pages: epub ahead of print
Online publication date: 02/04/2021
Acceptance date: 18/03/2021
ISSN (print): 0937-941X
ISSN (electronic): 1433-2965
Publisher: Springer UK
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