Efthymiou, S;
Herman, I;
Rahman, F;
Anwar, N;
Maroofian, R;
Yip, J;
Mitani, T;
Calame, DG;
Hunter, JV;
Sutton, VR;
et al.
Efthymiou, S; Herman, I; Rahman, F; Anwar, N; Maroofian, R; Yip, J; Mitani, T; Calame, DG; Hunter, JV; Sutton, VR; Yilmaz Gulec, E; Duan, R; Fatih, JM; Marafi, D; Pehlivan, D; Jhangiani, SN; Gibbs, RA; Posey, JE; SYNAPS Study Group; Maqbool, S; Lupski, JR; Houlden, H
(2021)
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Am J Med Genet A, 185 (7).
pp. 2241-2249.
ISSN 1552-4833
https://doi.org/10.1002/ajmg.a.62221
SGUL Authors: Maroofian, Reza
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| Item Type: | Article | |||||||||||||||||||||||||||||||||||||||||||||
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| 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 (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited. | |||||||||||||||||||||||||||||||||||||||||||||
| Keywords: | SYNAPS Study Group, 1103 Clinical Sciences, 0604 Genetics | |||||||||||||||||||||||||||||||||||||||||||||
| SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) | |||||||||||||||||||||||||||||||||||||||||||||
| Journal or Publication Title: | Am J Med Genet A | |||||||||||||||||||||||||||||||||||||||||||||
| ISSN: | 1552-4833 | |||||||||||||||||||||||||||||||||||||||||||||
| Language: | eng | |||||||||||||||||||||||||||||||||||||||||||||
| Dates: |
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| Publisher License: | Creative Commons: Attribution 4.0 | |||||||||||||||||||||||||||||||||||||||||||||
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| PubMed ID: | 33964184 | |||||||||||||||||||||||||||||||||||||||||||||
| Web of Science ID: | WOS:000648339400001 | |||||||||||||||||||||||||||||||||||||||||||||
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| URI: | https://openaccess.sgul.ac.uk/id/eprint/113393 | |||||||||||||||||||||||||||||||||||||||||||||
| Publisher's version: | https://doi.org/10.1002/ajmg.a.62221 |
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