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Article

Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).

European journal of medical genetics - 1 May 2018

Valenzuela Irene, Fernández-Alvarez Paula, Plaja Alberto, Ariceta Gema, Sabaté-Rotés Anna, García-Arumí Elena, Vendrell Teresa, Tizzano Eduardo

Abstract excerpt

The transcription factor SOX18 has been shown to play a role in the development of hair, blood and lymphatic vessels. Mutations in SOX18 result in hereditary lymphedema, with the unique clinical association of hypotrichosis and telangiectasia (HLTS). Some patients present with additional disease features which may be explained by the location of SOX18 mutation. We report a patient with...

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Source

Identifiers

PMID: 29307792
DOI: 10.1016/j.ejmg.2018.01.001

Genes

SOX18

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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