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

M. Balasubramanian*, J. Hurst, S. Brown, N. J. Bishop, P. Arundel, C. DeVile, R. C. Pollitt, L. Crooks, D. Longman, J. F. Caceres, F. Shackley, S. Connolly, J. H. Payne, A. C. Offiah, D. Hughes, M. J. Parker, W. Hide, T. M. Skerry

*Corresponding author for this work

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    Biochemistry, Genetics and Molecular Biology