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Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.
A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility.
Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome.
A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity.
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.