Lamb-Shaffer syndrome

[1]. Addie Nesbitt, et al. Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. Am J Med Genet A. 2015 Nov;167A(11):2548-54. [Content Brief]

[2]. Allen N Lamb, et al. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat. 2012 Apr;33(4):728-40. [Content Brief]

[3]. Daisuke Fukushi, et al. Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation. Gene. 2018 May 20;655:65-70. [Content Brief]