DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum-Reference-Cited by-同舟云学术

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DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum

Published:2016-08-11 Issue:12 Volume:27 Page:3607-3613
ISSN:0937-941X
Container-title:Osteoporosis International
language:en
Short-container-title:Osteoporos Int

Author:

Bardai G.,Moffatt P.,Glorieux F. H.,Rauch F.

Funder

Shriners of North America

Fonds de Recherche du Québec - Santé

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1007/s00198-016-3709-1.pdf

Reference26 articles.

1. Forlino A, Marini JC (2016) Osteogenesis imperfecta. Lancet 387:1657–1671

2. Sillence DO, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101–116

3. Bonafe L, Cormier-Daire V, Hall C et al (2015) Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A 167A:2869–2892

4. Rauch F, Glorieux FH (2004) Osteogenesis imperfecta. Lancet 363:1377–1385

5. Van Dijk FS, Sillence DO (2014) Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 164A:1470–1481

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