Zellweger Syndrome
What's New
Last Posted: Feb 25, 2023
- PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome.
He Yue, et al. Translational pediatrics 2021 0 (7) 1825-1833 - Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
Smith Claire E L, et al. European journal of human genetics : EJHG 2016 6 - A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.
Fedick A, et al. Clinical genetics 2014 4 (4) 343-6 - Peroxisome biogenesis disorder-Zellweger syndrome spectrum
From NCATS Genetic and Rare Diseases Information Center - Zellweger 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
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