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

TitleTwo novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Publication TypeJournal Article
Year of Publication2021
AuthorsEfthymiou, S, Herman, I, Rahman, F, Anwar, N, Maroofian, R, Yip, J, Mitani, T, Calame, DG, Hunter, JV, V Sutton, R, Gulec, EYilmaz, Duan, R, Fatih, JM, Marafi, D, Pehlivan, D, Jhangiani, SN, Gibbs, RA, Posey, JE, Maqbool, S, Lupski, JR, Houlden, H
Corporate AuthorsSYNAPS Study Group
JournalAm J Med Genet A
Date Published2021 May 08
ISSN1552-4833
DOI10.1002/ajmg.a.62221
Alternate JournalAm J Med Genet A
PubMed ID33964184
Grant ListG0601943 / MR / Medical Research Council / United Kingdom
MR/S005021/1 / MR / Medical Research Council / United Kingdom
MR/S01165X/1 / MR / Medical Research Council / United Kingdom
512848 / / Muscular Dystrophy Association /
BHCMG / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States
K08 HG008986 / HG / NHGRI NIH HHS / United States
U54HG00327 / HG / NHGRI NIH HHS / United States
R35NS105078 / NS / NINDS NIH HHS / United States
T32 GM007526-42 / / NIH Clinical Center /
T32 NS043124-17 / / NIH Clinical Center /
/ / Uehara Memorial Foundation /
WT093205 MA / WT / Wellcome Trust / United Kingdom
WT104033AIA / WT / Wellcome Trust / United Kingdom