Associated Papers
Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.
Su L et al.
Molecular Genetics & Genomic Medicine, 2024
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.
Shaheen R et al.
Clinical Genetics, 2011
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
Al-Dirbashi OY et al.
American Journal of Medical Genetics. Part A, 2009
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