SOX5

Publications

Edgerley K et al. SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum. Am J Med Genet A. 2023;191(5):1447-1458. doi: 10.1002/ajmg.a.63124. PMID: 36861937.

Lamb AN 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;33(4):728-40. doi: 10.1002/humu.22037. PMID: 22290657.

Zawerton A et al. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020;22(3):524-537. doi: 10.1038/s41436-019-0657-0. PMID: 31578471.