Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance by Tooze, RS, Miller, KA, Swagemakers, SMA, Calpena, E, McGowan, SJ, Boute, O, Collet, C, Johnson, D, Laffargue, F, de Leeuw, N, Morton, JV, Noons, P, Ockeloen, CW, Phipps, JM, Tan, TY, Timberlake, AT, Vanlerberghe, C, Wall, SA, Weber, A, Wilson, LC, Zackai, EH, Mathijssen, IMJ, Twigg, SRF, Wilkie, AOM

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