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

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