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Long-term evaluation of anabolic and anti-resorptive agents in adults with familial osteoporosis due to pro205ala variant of the col1a1 gene

Lookup NU author(s): Dr Harish Datta, Dr Stephen Tuck

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Abstract

© 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.

Publication metadata

Author(s): Datta HK, Vila J, Tuck SP

Publication type: Article

Publication status: Published

Journal: Osteoporosis International

Year: 2021

Volume: 32

Pages: 2105-2109

Online publication date: 02/04/2021

Acceptance date: 18/03/2021

ISSN (print): 0937-941X

ISSN (electronic): 1433-2965

Publisher: Springer UK

URL: https://doi.org/10.1007/s00198-021-05933-3

DOI: 10.1007/s00198-021-05933-3

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