| 1 | HLTS, SOX18
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| Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.
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| Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D.
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| Clin Genet 87(4):378-82. doi: 10.1111/cge.12388. Epub 2014 Apr 16.
2015
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| 2 | HLTS, SOX18
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| Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation.
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| Downes M, François M, Ferguson C, Parton RG, Koopman P.
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| Hum Mol Genet 18(15):2839-50. Epub 2009 May 9.
2009
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| 3 | HLTS, SOX18
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| Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
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| Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M.
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| Am J Hum Genet 72(6):1470-8. Epub 2003 May 08. 2003
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