Fluorescence in situ hybridization analysis is useful for the diagnosis of the carrier state of X-linked ichthyosis
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-4632.2008.03406.x/fullpdf
Reference5 articles.
1. Molecular studies of deletions at the human steroid sulfatase locus.
2. Complementation studies with clinical and biochemical characterizations of a new variant of multiple sulphatase deficiency
3. Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis
4. Differential expression of steroid sulphatase locus on active and inactive human X chromosome
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1. A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism;Clinical and Experimental Dermatology;2018-09-16
2. Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis;Journal of Dermatological Science;2015-09
3. Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis;Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids;2014-03
4. 9 Disorders of epidermal maturation and keratinization;Weedon's Skin Pathology;2010
5. Disorders of epidermal maturation and keratinization;Weedon's Skin Pathology;2010
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