PubMed (OMIM) for id: 54345

Year	Number of Results
1987	1
1989	1
1991	1
1996	1
2000	3
2001	1
2003	1
2008	1
2009	1
2013	1
2014	1
2015	2
2016	1
2024	0

1

Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.

Wünnemann F, Kokta V, Leclerc S, Thibeault M, McCuaig C, Hatami A, Stheneur C, Grenier JC, Awadalla P, Mitchell GA, Andelfinger G, Preuss C. Wünnemann F, et al. Can J Cardiol. 2016 Jan;32(1):135.e1-7. doi: 10.1016/j.cjca.2015.04.004. Epub 2015 Apr 13. Can J Cardiol. 2016. PMID: 26148450

2

Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.

Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D. Moalem S, et al. Clin Genet. 2015 Apr;87(4):378-82. doi: 10.1111/cge.12388. Epub 2014 Apr 16. Clin Genet. 2015. PMID: 24697860

3

Retrotransposon insertion in the T-cell acute lymphocytic leukemia 1 (Tal1) gene is associated with severe renal disease and patchy alopecia in Hairpatches (Hpt) mice.

Hosur V, Cox ML, Burzenski LM, Riding RL, Alley L, Lyons BL, Kavirayani A, Martin KA, Cox GA, Johnson KR, Shultz LD. Hosur V, et al. PLoS One. 2013;8(1):e53426. doi: 10.1371/journal.pone.0053426. Epub 2013 Jan 2. PLoS One. 2013. PMID: 23301070 Free PMC article.

4

Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation.

Downes M, François M, Ferguson C, Parton RG, Koopman P. Downes M, et al. Hum Mol Genet. 2009 Aug 1;18(15):2839-50. doi: 10.1093/hmg/ddp219. Epub 2009 May 9. Hum Mol Genet. 2009. PMID: 19429912

5

Sox18 induces development of the lymphatic vasculature in mice.

François M, Caprini A, Hosking B, Orsenigo F, Wilhelm D, Browne C, Paavonen K, Karnezis T, Shayan R, Downes M, Davidson T, Tutt D, Cheah KS, Stacker SA, Muscat GE, Achen MG, Dejana E, Koopman P. François M, et al. Nature. 2008 Dec 4;456(7222):643-7. doi: 10.1038/nature07391. Epub 2008 Oct 19. Nature. 2008. PMID: 18931657

6

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M. Irrthum A, et al. Am J Hum Genet. 2003 Jun;72(6):1470-8. doi: 10.1086/375614. Epub 2003 May 8. Am J Hum Genet. 2003. PMID: 12740761 Free PMC article.

7

Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?

Glade C, van Steensel MA, Steijlen PM. Glade C, et al. Eur J Dermatol. 2001 Nov-Dec;11(6):515-7. Eur J Dermatol. 2001. PMID: 11701398

8

Structure, mapping, and expression of human SOX18.

Pennisi DJ, James KM, Hosking B, Muscat GE, Koopman P. Pennisi DJ, et al. Mamm Genome. 2000 Dec;11(12):1147-9. doi: 10.1007/s003350010216. Mamm Genome. 2000. PMID: 11130989 No abstract available.

9

cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18.

Azuma T, Seki N, Yoshikawa T, Saito T, Masuho Y, Muramatsu M. Azuma T, et al. J Hum Genet. 2000;45(3):192-5. doi: 10.1007/s100380050210. J Hum Genet. 2000. PMID: 10807548

10

Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice.

Pennisi D, Gardner J, Chambers D, Hosking B, Peters J, Muscat G, Abbott C, Koopman P. Pennisi D, et al. Nat Genet. 2000 Apr;24(4):434-7. doi: 10.1038/74301. Nat Genet. 2000. PMID: 10742113

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