Associated Papers
Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling.
Malone KE et al.
Genetics in Medicine Open, 2025
40519747 (PubMed )
Supplement: mmc1.xlsx › Known_pathogenic_variants
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY et al.
Human Mutation, 2009
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
Crane DI et al.
Human Mutation, 2005
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.
Lee J et al.
Ear and Hearing, 0
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