@article{2fa9e6efa1014caf8332799c9315cbf0,
title = "Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta",
keywords = "Bone, Collagen expression, Fragility, NBAS, Nonsense mediated decay (NMD), Osteogenesis imperfecta, Secretory pathway",
author = "M. Balasubramanian and J. Hurst and S. Brown and Bishop, {N. J.} and P. Arundel and C. DeVile and Pollitt, {R. C.} and L. Crooks and D. Longman and Caceres, {J. F.} and F. Shackley and S. Connolly and Payne, {J. H.} and Offiah, {A. C.} and D. Hughes and Parker, {M. J.} and W. Hide and Skerry, {T. M.}",
note = "Funding Information: Patient 2: The Deciphering Developmental Disorders (DDD) study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003 ], a parallel funding partnership between the Wellcome Trust and the Department of Health , and the Wellcome Trust Sanger Institute [grant number WT098051 ]. The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research , through the Comprehensive Clinical Research Network. Funding Information: Patient 1: This research was supported by The Sheffield Children's Hospital Charity (TCHC) grant number CA15001 . Publisher Copyright: {\textcopyright} 2016 Elsevier Inc.",
year = "2017",
month = jan,
day = "1",
doi = "10.1016/j.bone.2016.10.023",
language = "English",
volume = "94",
pages = "65--74",
journal = "Bone",
issn = "8756-3282",
publisher = "Elsevier",
}