BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Autor: Gabriela Sánchez-Andrade, Susan E. Holder, Jeremy F. McRae, Stephen J. Sawiak, Song-Choon Lee, Pelagia Deriziotis, Shelagh Joss, Tjitske Kleefstra, Julien Thevenon, Jenny Morton, Simon E. Fisher, Cristina Dias, Mathew E. Hurles, Sara Busquets Estruch, Kelly Mellul, Claire L. S. Turner, Darren W. Logan, Sarah A. Graham, Rui Santos, Ximena Ibarra-Soria, Laurence Faivre, Jane A. Hurst, Pentao Liu

Publikováno v: The American Journal of Human Genetics
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (2), pp.253-274. ⟨10.1016/j.ajhg.2016.05.030⟩
American Journal of Human Genetics, 99, 2, pp. 253-274
American Journal of Human Genetics, 99, 253-274
Dias, C, Estruch, S B, Graham, S A, McRae, J, Sawiak, S J, Hurst, J A, Joss, S K, Holder, S E, Morton, J E V, Turner, C, Thevenon, J, Mellul, K, Sánchez-Andrade, G, Ibarra-Soria, X, Deriziotis, P, Santos, R F, Lee, S-C, Faivre, L, Kleefstra, T, Liu, P, Hurles, M E & Fisher, S E & Logan, D W 2016, ' BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription ', American Journal of Human Genetics, vol. 99, no. 2, pp. 253-274 . https://doi.org/10.1016/j.ajhg.2016.05.030

Contains fulltext : 167380.pdf (Publisher’s version ) (Open Access) Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e2b0c5321656ea6915dd869874775e1
https://pubmed.ncbi.nlm.nih.gov/27453576