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Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

Efthymiou, S; Herman, I; Rahman, F; Anwar, N; Maroofian, R; Yip, J; Mitani, T; ... Houlden, H; + view all (2021) Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. American Journal of Medical Genetics Part A , 185 (7) pp. 2241-2249. 10.1002/ajmg.a.62221. Green open access

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Type: Article
Title: Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/ajmg.a.62221
Publisher version: http://dx.doi.org/10.1002/ajmg.a.62221
Language: English
Additional information: © 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10127750
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