| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5585370 | Bone | 2017 | 10 Pages |
Abstract
Here we report on variants in NBAS, as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS. We explore the mechanism underlying NBAS and the striking skeletal phenotype in our patients.
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Authors
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, DDD Study DDD Study, M.J. Parker, W. Hide, T.M. Skerry,