Molecular study of X-linked ichthyosis: Report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient
Author:
Funder
Higher Education Commission (HEC) of Pakistan
Publisher
Elsevier BV
Subject
Dermatology,Molecular Biology,Biochemistry
Reference8 articles.
1. X-linked ichthyosis: an oculocutaneous genodermatosis;Fernandes;J Am Acad Dermatol,2010
2. Clinico-epidemiological features of primary hereditary ichthyoses in the Eastern province of Saudi Arabia;Al-Zayir;Int J Dermatol,2006
3. Hereditary ichthyosis in Tunisia: epidemiological study of 60 cases;Kharfi;Tunis Med,2008
4. Analysis of the STS gene in 40 patients with X-linked ichthyosis: a high frequency of partial deletions in a Spanish population;Cañueto;J Eur Acad Dermatol Venereol,2010
5. Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein;Alperin;J Biol Chem,1997
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1. Revisiting X‐linked congenital ichthyosis;International Journal of Dermatology;2024-07-31
2. Genetic Study of X-Linked Recessive Ichthyosis in Eastern Ukraine;Cytology and Genetics;2021-01
3. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients;BMC Medical Genetics;2020-01-31
4. Mendelian Disorders of Cornification (MEDOC);Harper's Textbook of Pediatric Dermatology;2019-11-20
5. Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene;Acta Dermato Venereologica;2019
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