Associated Papers
A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity.
McCann AJ et al.
Nucleic Acids Research, 2021
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
Coulie R et al.
American Journal of Medical Genetics. Part A, 2021
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
Bastaki F et al.
Molecular and Cellular Probes, 2016
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