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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; 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
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:
DateEvent
16 June 2021Published
8 May 2021Published Online
2 April 2021Accepted
Publisher License: Creative Commons: Attribution 4.0
Projects:
Project IDFunderFunder ID
512848Muscular Dystrophy Associationhttp://dx.doi.org/10.13039/100005202
BHCMGNHGRI NIH HHSUNSPECIFIED
UM1 HG006542NHGRI NIH HHSUNSPECIFIED
K08 HG008986NHGRI NIH HHSUNSPECIFIED
U54HG00327NHGRI NIH HHSUNSPECIFIED
R35NS105078NINDS NIH HHSUNSPECIFIED
T32 GM007526-42NIH Clinical CenterUNSPECIFIED
T32 NS043124-17NIH Clinical CenterUNSPECIFIED
UNSPECIFIEDUehara Memorial FoundationUNSPECIFIED
G0601943Medical Research Councilhttp://dx.doi.org/10.13039/501100000265
MR/S005021/1Medical Research Councilhttp://dx.doi.org/10.13039/501100000265
MR/S01165X/1Medical Research Councilhttp://dx.doi.org/10.13039/501100000265
WT093205 MAWellcome TrustUNSPECIFIED
WT104033AIAWellcome TrustUNSPECIFIED
PubMed ID: 33964184
Web of Science ID: WOS:000648339400001
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/113393
Publisher's version: https://doi.org/10.1002/ajmg.a.62221

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