Harlequin Ichthyosis
What's New
Last Posted: Apr 16, 2024
- Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients.
Andrea Diociaiuti, et al. Dermatology (Basel, Switzerland) 2024 0 - [Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis].
Yan Xiaojie, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 0 (12) 1195-1198 - High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany.
Frommherz L, et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2021 0 (11) 2293-2299 - Harlequin ichthyosis
From NCATS Genetic and Rare Diseases Information Center
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
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- Page last reviewed:Feb 1, 2024
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