Clinical and molecular consequences of disease-associated de novo mutations in SATB2

<h4>Purpose</h4> <p>To characterise features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability.</p> <h4>Methods</h4> <p>20 previously unreported individuals with 19 different SATB2...

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Bibliographic Details
Main Authors: Bengani, H, Handley, M, Alvi, M, Ibitoye, R, Lees, M, Lynch, S, Lam, W, Fannemel, M, Nordgren, A, Malmgren, H, Kvarnugn, M, Mehta, S, McKee, S, Whiteford, M, Stewart, F, Connell, F, Clayton-Smith, J, Mansour, S, Mohammed, S, Fryer, A, Morton, J, UK10K Consortium, Grozeva, D, Asam, T, Moore, D, Sifrim, A, McRae, J, Hurles, M, Firth, H, Raymond, F, Kini, U, Nellaker, C, DDD Study, FitzPatrick, D
Format: Journal article
Published: Nature Publishing Group 2017