Publications

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Filters: Author is Efthymiou, Stephanie and First Letter Of Title is T  [Clear All Filters]
2021
Efthymiou, S. et al. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62221