Hypotrichosis-Lymphedema-Telangiectasia Syndrome (HLTS)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1141-1
Reference13 articles.
1. Atis G, Sam Sari A, Soylu E, Akgun Dogan O (2022) A case with Hypotrichosis-lymphedema-telangiectasia syndrome with hair shaft fragility. Skin Appendage Disord 8(6):511–514
2. Bastaki F, Mohamed M, Nair P, Saif F, Tawfiq N, Al-Ali MT, Brandau O, Hamzeh AR (2016) A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by whole exome sequencing. Mol Cell Probes 30(1):18–21
3. Coulie R, Niyazov DM, Gambello MJ, Fastre E, Brouillard P, Vikkula M (2021) Hypotrichosis-lymphedema-telangiectasia syndrome: report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum. Am J Med Genet A 185(7):2153–2159
4. Dailey C, Oshodi RB, Boull C, Aggarwal A (2022) Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. Eur J Med Genet 65(11):104607
5. Downes M, Francois M, Ferguson C, Parton RG, Koopman P (2009) Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation. Hum Mol Genet 18(15):2839–2850
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