Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

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Date: June 20, 2023
Authors:
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick R Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabelle Marey, Anne-Claude Tabet, Johnathan Levy, Laurence Perrin, Andreas Hartmann, Gaetan Lesca, Caroline Schluth-Bolard, Pauline Monin, Sophie Dupuis-Girod, Maria J. Guillen Sacoto, Rhonda E Schnur, Zehua Zhu, Alice Poisson, Salima El Chehadeh, Yves Alembik, Ange-Line Bruel, Daphne Lehalle, Sophie Nambot, Sebastien Moutton, Sylvie Odent, Sylvie Jailard, Christele Dubourg, Yvonne Hilhorst-Hofstee, Tina Barbaro-Dieber, Lucia Ortega, Elizabeth J. Bhoj, Diane Masser-Frye, Lynne M. Bird, Kristin Lindstrom, Keri Ramsey, Vinodh Narayanan MD, Emily Fassi, Marcia C. Willing, Trevor Cole, Claire Salter, Rhoda Akilapa, Anthony Vandersteen, Natalie Canham, Patrick Rump, Erica H. Gerkes, Jolien Klein Wassink-Ruiter, Emilia K. Bijlsma, Mariette J.V. Hoffer, Marcelo Vargas, Antonina Wojcik, Florian Cherik, Christine Francannet, Jill A. Rosenfeld, Keren Machol, Daryl Scott, Carlos A. Bacino, Xia Wang, Gary Clark, Marta Bertoli, Simon Zwolinski, Rhys H. Thomas, Ela Akay, Richard C. Chang, Rebekah Bressi, Rossana Sanchez Russo, Myriam Srour, Laura Russell, Anne-Marie E Goyette, Lucie Dupuis, Roberto Mendoza-Londono, Catherine Karimov, Maries Joseph, Mathilde Nizon, Benjamin Cogne, Alma Kuechler, Amelie Piton, Eric W. Klee, Veronique Lefebvre, Karl J Clark, Christel Depienne
Journal: Genetics in Medicine
Journal Volume: 22