Associated Papers
Landscape of Constitutional SOX4 Variation in Human Disorders.
Grippa M et al.
Genes, 2024
A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility.
Atış G et al.
Skin Appendage Disorders, 2022
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
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
Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.
Moalem S et al.
Clinical Genetics, 2015
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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