| Title: |
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features |
| Authors: |
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 |
| Source: |
American Journal of Medical Genetics Part A , 185 (7) pp. 2241-2249. (2021) |
| Publication Year: |
2021 |
| Collection: |
University College London: UCL Discovery |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/10127750/1/ajmg.a.62221.pdf; https://discovery.ucl.ac.uk/id/eprint/10127750/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/10127750/1/ajmg.a.62221.pdf; https://discovery.ucl.ac.uk/id/eprint/10127750/ |
| Rights: |
open |
| Accession Number: |
edsbas.AAEED17 |
| Database: |
BASE |