Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Ichthyosis and STS[original query] |
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Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population. Journal of the European Academy of Dermatology and Venereology : JEADV 2010 Oct 24 (10): 1226-9. Cañueto J, Ciria S, Hernández-Martín A, Unamuno P, González-Sarmiento |
Duplication of the STS region in males is a benign copy-number variant. American journal of medical genetics. Part A 2011 Aug 155A (8): 1972-5. Furrow Aubry, Theisen Aaron, Velsher Lea, Bawle Erawati V, Sastry Sujatha, Mendelsohn Nancy J, Jarvis Kristi, Shaffer Lisa G, Chitayat Dav |
STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity. The British journal of dermatology 2022 Jul . Nagtzaam Ivo F, van Leersum Frank S, Kouwenberg Laurie C M, Blok Marinus J, Vreeburg Maaike, Steijlen Peter M, Gosty?ski Antoni, van Geel Mich |
Characterising heart rhythm abnormalities associated with Xp22.31 deletion. Journal of medical genetics 2022 11 . Wren Georgina, Baker Emily, Underwood Jack, Humby Trevor, Thompson Andrew, Kirov George, Escott-Price Valentina, Davies Willi |
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