Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum
| Autor: | Emrick, Lisa T. 1, 2, 3, Rosenfeld, Jill A. 3, Lalani, Seema R. 2, 3, 4, Jain, Mahim 3, 10, Desai, Nilesh K. 5, Larson, Austin 6, Kripps, Kimberly 6, Vanderver, Adeline 7, Taft, Ryan J. 8, Bluske, Krista 8, Perry, Denise 8, Nagakura, Honey 9, 11, Immken, LaDonna L. 9, Burrage, Lindsay C. 2, 3, Bacino, Carlos A. 2, 3, 4, Belmont, John W. 3, 12, Lee, Brendan 2, 3 |
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| Zdroj: | In Genetics in Medicine July 2019 21(7):1652-1656 |
| Databáze: | ScienceDirect |
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