Last Posted: Jan 22, 2020
- 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
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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