Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity
| Autor: | Chorin, Odelia, Chowers, Guy, Agbariah, Rawan, Karklinsky, Shani, Barel, Ortal, Bar-Joseph, Ifat, Reznik-Wolf, Haike, Shamash, Jana, Pode-Shakked, Ben, Jacobson, Jeffrey M., Huna-Baron, Ruth, Redler, Yael, Tirosh, Irit, Vivante, Asaf, Raas-Rothschild, Annick |
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| Zdroj: | In European Journal of Medical Genetics January 2022 65(1) |
| Databáze: | ScienceDirect |
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