Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
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ABSTRACT:
SUBMITTER: Efthymiou S
PROVIDER: S-EPMC8436746 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
Publications
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Efthymiou Stephanie S Herman Isabella I Rahman Fatima F Anwar Najwa N Maroofian Reza R Yip Janice J Mitani Tadahiro T Calame Daniel G DG Hunter Jill V JV Sutton V Reid VR Yilmaz Gulec Elif E Duan Ruizhi R Fatih Jawid M JM Marafi Dana D Pehlivan Davut D Jhangiani Shalini N SN Gibbs Richard A RA Posey Jennifer E JE Maqbool Shazia S Lupski James R JR Houlden Henry H
American journal of medical genetics. Part A 20210508 7
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