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

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

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Patrick R. Blackburn
Zawerton et al., 2020

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Elsevier, Genetics in Medicine, 3(22), p. 524-537, 2020

DOI: 10.1038/s41436-019-0657-0

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@article{Zawerton2020,
  author = {Zawerton, Ash and Mignot, Cyril and Sigafoos, Ashley and Blackburn, Patrick R. and Haseeb, Abdul and McWalter, Kirsty and Ichikawa, Shoji and Nava, Caroline and Keren, Boris and Charles, Perrine and Marey, Isabelle and Tabet, Anne-Claude and Levy, Jonathan and Perrin, Laurence and Hartmann, Andreas and Lesca, Gaetan and Schluth-Bolard, Caroline and Monin, Pauline and Dupuis-Girod, Sophie and Guillen Sacoto, Maria J. and Schnur, Rhonda E. and Zhu, Zehua and Poisson, Alice and El Chehadeh, Salima and Alembik, Yves and Bruel, Ange-Line and Lehalle, Daphné and Nambot, Sophie and Moutton, Sébastien and Odent, Sylvie and Jaillard, Sylvie and Dubourg, Christèle and Hilhorst-Hofstee, Yvonne and Barbaro-Dieber, Tina and Ortega, Lucia and Bhoj, Elizabeth J. and Masser-Frye, Diane and Bird, Lynne M. and Lindstrom, Kristin and Ramsey, Keri M. and Narayanan, Vinodh and Fassi, Emily and Willing, Marcia and Cole, Trevor and Salter, Claire G. and Akilapa, Rhoda and Vandersteen, Anthony and Canham, Natalie and Rump, Patrick and Gerkes, Erica H. and Klein Wassink-Ruiter, Jolien S. and Bijlsma, Emilia and Hoffer, Mariëtte and Vargas, Marcelo and Wojcik, Antonina and Cherik, Florian and Francannet, Christine and Rosenfeld, Jill A. and Machol, Keren and Scott, Daryl A. and Bacino, Carlos A. and Wang, Xia and Clark, Gary D. and Bertoli, Marta and Zwolinski, Simon and Thomas, Rhys H. and Akay, Ela and Chang, Richard C. and Bressi, Rebekah and Sanchez Russo, Rossana and Srour, Myriam and Russell, Laura and Goyette, Anne-Marie E. and Dupuis, Lucie and Mendoza-Londono, Roberto and Karimov, Catherine and Joseph, Maries and Nizon, Mathilde and Cogné, Benjamin and Kuechler, Alma and Piton, Amélie and Klee, Eric W. and Lefebvre, Véronique and Clark, Karl J. and Depienne, Christel},
  doi = {10.1038/s41436-019-0657-0},
  journal = {Genetics in Medicine},
  month = {mar},
  pages = {524-537},
  title = {Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency},
  url = {http://www.nature.com/articles/s41436-019-0657-0.pdf},
  volume = {22},
  year = {2020}
}

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