Hurler–scheie Syndrome
What's New
Last Posted: Mar 06, 2023
- Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.
Chkioua Latifa, et al. Diagnostic pathology 2018 0 (1) 35 - Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations.
Kamranjam Mana, et al. Genetic testing and molecular biomarkers 2019 0 (8) 515-522 - CLINGEN Actionability Report for Mucopolysaccharidosis type I-IDUA
ClinGen Actionability Working Group - Hurler–Scheie syndrome
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
- Page last updated:May 07, 2024
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