High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

Autor: Yu Chang Wang, Dorothée Bouron-Dal Soglio, Kristine L. Doyle, Dunarel Badescu, Saskia M. J. Hopman, Jiannis Ragoussis, Evan Weber, Barbara Rivera, John R. Priest, Charlotte Engelenberg, Timothée Revil, Aparna Ramasubramanian, Linus Forsmark, Antonia H. M. Bouts, Johannes H. M. Merks, Mona Wu, Johanna M. van Hagen, Nelly Sabbaghian, William D. Foulkes, Tonja Toler, Claudio Sandoval, David A. Plager, Janine Callahan, Leanne de Kock

Publikováno v: Journal of Medical Genetics, 53(1), 43-52. BMJ Publishing Group
Journal of medical genetics, 53(1), 43-52. BMJ Publishing Group
Journal of Medical Genetics, 53(1), 43. BMJ Publishing Group
de Kock, L, Wang, Y C, Revil, T, Badescu, D, Rivera, B, Sabbaghian, N, Wu, M, Weber, E, Sandoval, C, Hopman, S M J, Merks, J H M, van Hagen, J M, Bouts, A H M, Plager, D A, Ramasubramanian, A, Forsmark, L, Doyle, K L, Toler, T, Callahan, J, Engelenberg, C, Bouron-Dal Soglio, D, Priest, J R, Ragoussis, J & Foulkes, W D 2016, ' High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome ', Journal of Medical Genetics, vol. 53, no. 1, pp. 43-52 . https://doi.org/10.1136/jmedgenet-2015-103428

Background Somatic mosaicism is being increasingly recognised as an important cause of non-Mendelian presentations of hereditary syndromes. A previous whole-exome sequencing study using DNA derived from peripheral blood identified mosaic mutations in

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https://doi.org/10.1136/jmedgenet-2015-103428