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

Detalles Bibliográficos
Autores principales:	Efthymiou, Stephanie, Herman, Isabella, Rahman, Fatima, Anwar, Najwa, Maroofian, Reza, Yip, Janice, Mitani, Tadahiro, Calame, Daniel G., Hunter, Jill V., Sutton, V. Reid, Yilmaz 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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2021
Materias:	Research Letters
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8436746/ https://www.ncbi.nlm.nih.gov/pubmed/33964184 http://dx.doi.org/10.1002/ajmg.a.62221

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