Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)

Giovanni Innella 1, Donatella Greco 2, Diana Carli 3, Pamela Magini 1, Elisa Giorgio 4, Ornella Galesi 2, Giovanni Battista Ferrero 4, Corrado Romano 2, Alfredo Brusco 4 5, Claudio Graziano 1

Affiliations

1Medical Genetics Unit, Policlinico di S. Orsola, University of Bologna, Bologna, Italy.
2Oasi Research Institute - IRCCS, Troina, Italy.
3Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy.
4Department of Medical Sciences, University of Turin, Turin, Italy.
5Unit of Medical Genetics, "Città della Salute e della Scienza" University Hospital, Turin, Italy.

Am J Med Genet A. 2021 Feb;185(2):608-613. doi: 10.1002/ajmg.a.62001. Epub 2020 Dec