Associated Papers
Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.
Kanno M et al.
American Journal of Medical Genetics. Part A, 2026
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
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
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
Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
Wünnemann F et al.
The Canadian Journal of Cardiology, 2016
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