Article
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
American journal of medical genetics. Part A - 1 Jul 2021
Coulie Richard, Niyazov Dmitriy M, Gambello Michael J, Fastré Elodie, Brouillard Pascal, Vikkula Miikka
Abstract excerpt
Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition caused by pathogenic variants in the SOX18 gene. SOX18 plays a key role in angio- and lymphangiogenesis due to its expression in venous endothelial cells from which the lymphatic system develops. It is also expressed in embryonic hair follicles, heart, and vascular smooth muscle cells. The main clinical symptoms of HLTS include sparse...
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