Title | Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. |
Publication Type | Journal Article |
Year of Publication | 2021 |
Authors | Efthymiou, 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 Authors | SYNAPS Study Group |
Journal | Am J Med Genet A |
Volume | 185 |
Issue | 7 |
Pagination | 2241-2249 |
Date Published | 2021 Jul |
ISSN | 1552-4833 |
Keywords | Alleles, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Humans, Male, Mutation, Missense, Neurodevelopmental Disorders, Osteogenesis Imperfecta, Vesicular Transport Proteins |
DOI | 10.1002/ajmg.a.62221 |
Alternate Journal | Am J Med Genet A |
PubMed ID | 33964184 |
PubMed Central ID | PMC8436746 |
Grant List | T32 NS043124-17 / / NIH Clinical Center / T32 GM007526 / GM / NIGMS NIH HHS / United States U54HG00327 / HG / NHGRI NIH HHS / United States T32 GM007526-42 / / NIH Clinical Center / R35 NS105078 / NS / NINDS NIH HHS / United States K08 HG008986 / HG / NHGRI NIH HHS / United States T32 NS043124 / NS / NINDS NIH HHS / United States WT093205 MA / WT_ / Wellcome Trust / United Kingdom MR/S01165X/1 / MRC_ / Medical Research Council / United Kingdom WT104033AIA / WT_ / Wellcome Trust / United Kingdom / WT_ / Wellcome Trust / United Kingdom MR/S005021/1 / MRC_ / Medical Research Council / United Kingdom R35NS105078 / NS / NINDS NIH HHS / United States G0601943 / MRC_ / Medical Research Council / United Kingdom UM1 HG006542 / HG / NHGRI NIH HHS / United States U54 HG003273 / HG / NHGRI NIH HHS / United States |
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
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