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Article

Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the <scp>SOX18</scp> gene

2 Apr 2014

Abstract excerpt

SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnosed with HLTS and DNA analysis for the SOX18 gene showed that both had the identical heterozygous C...

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PMID: 24697860
DOI: 10.1111/cge.12388

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