X-linked Ichthyosis
What's New
Last Posted: Jun 01, 2024
- Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Tiziana Fioretti, et al. Biomedicines 2024 0 (5) - Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang Laura A, et al. Journal of inherited metabolic disease 2020 0 (6) 1298-1309 - STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.
Nagtzaam Ivo F, et al. The British journal of dermatology 2022 7 - Next Generation Sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.
Cheng Ruhong et al. Clinical genetics 2020 Jan - Increased Prevalence of Filaggrin Deficiency in 51 Patients with Recessive X-Linked Ichthyosis Presenting for Dermatological Examination.
Süßmuth Kira, et al. The Journal of investigative dermatology 2017 10 - Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.
Lee Noo Ri, et al. Journal of Korean medical science 2016 8 (8) 1307-18 - Duplication of the STS region in males is a benign copy-number variant.
Furrow Aubry, et al. American journal of medical genetics. Part A 2011 8 (8) 1972-5 - X-linked ichthyosis
From NCATS Genetic and Rare Diseases Information Center - Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population.
Cañueto J, et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2010 10 (10) 1226-9
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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