Associated Papers
A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity.
McCann AJ et al.
Nucleic Acids Research, 2021
Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema.
Martin-Almedina S et al.
Physiological Reviews, 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
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
Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.
Moalem S et al.
Clinical Genetics, 2015
Construction and functional analysis of novel dominant-negative mutant of human SOX18 protein.
Milivojevic M et al.
Biochemistry. Biokhimiia, 2013
Update on the molecular genetics of vascular anomalies.
Wang QK
Lymphatic Research and Biology, 2005
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
Irrthum A et al.
American Journal of Human Genetics, 2003
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