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Phenotype and natural history in Marshall-Smith syndrome. by Shaw, A, van Balkom, I, Bauer, M, Cole, T, Delrue, M, Van Haeringen, A, Holmberg, E, Knight, S, Mortier, G, Nampoothiri, S, Pušeljić, S, Zenker, M, Cormier-Daire, V, Hennekam, R
Published 2010Journal article -
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants by Johnston, JJ, van der Smagt, JJ, Rosenfeld, JA, Pagnamenta, AT, Alswaid, A, Baker, EH, Blair, E, Borck, G, Brinkmann, J, Craigen, W, Dung, VC, Emrick, L, Everman, DB, van Gassen, KL, Gulsuner, S, Harr, MH, Jain, M, Kuechler, A, Leppig, KA, McDonald-McGinn, DM, Can, NTB, Peleg, A, Roeder, ER, Rogers, RC, Sagi-Dain, L, Sapp, JC, Schäffer, AA, Schanze, D, Stewart, H, Taylor, JC, Verbeek, NE, Walkiewicz, MA, Zackai, EH, Zweier, C, Zenker, M, Lee, B, Biesecker, LG
Published 2018Journal article