Associated Papers
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
R-propranolol is a small molecule inhibitor of the SOX18 transcription factor in a rare vascular syndrome and hemangioma.
Overman J et al.
Elife, 2019
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).
Valenzuela I et al.
European Journal of Medical Genetics, 2018
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
Select a paper to view details