Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

BACKGROUND: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clin...

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Pubblicato in:Bone
Autori principali: Balasubramanian, M, Hurst, J, Brown, S, Bishop, NJ, Arundel, P, DeVile, C, Pollitt, RC, Crooks, L, Longman, D, Caceres, JF, Shackley, F, Connolly, S, Payne, JH, Offiah, AC, Hughes, D, Parker, MJ, Hide, W, Skerry, T
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6067660/
https://ncbi.nlm.nih.gov/pubmed/27789416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2016.10.023
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