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

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Bibliographic Details
Published in:	American journal of medical genetics. Part A 2021-07, Vol.185 (7), p.2241-2249
Main Authors:	Efthymiou, Stephanie, Herman, Isabella, Rahman, Fatima, Anwar, Najwa, Maroofian, Reza, Yip, Janice, Mitani, Tadahiro, Calame, Daniel G., Hunter, Jill V., Sutton, V. Reid, Gulec, Elif, Duan, Ruizhi, Fatih, Jawid M., Marafi, Dana, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Posey, Jennifer E., Maqbool, Shazia, Lupski, James R., Houlden, Henry
Format:	Article
Language:	English
Subjects:	Alleles Child Child, Preschool Female Genetic Predisposition to Disease Humans Male Mutation, Missense - genetics Neurodevelopmental Disorders - genetics Neurodevelopmental Disorders - physiopathology Osteogenesis Osteogenesis imperfecta Osteogenesis Imperfecta - genetics Osteogenesis Imperfecta - physiopathology Research Letter Research Letters Vesicular Transport Proteins - genetics
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