Associated Papers
Two siblings with PEX11B-related peroxisome biogenesis disorder.
Khoddam S et al.
European Journal of Medical Genetics, 2024
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
Recognition and Chaperoning by Pex19, Followed by Trafficking and Membrane Insertion of the Peroxisome Proliferation Protein, Pex11.
Zientara-Rytter KM et al.
Cells, 2022
Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.
Tian Y et al.
Molecular Genetics & Genomic Medicine, 2020
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Taylor RL et al.
Investigative Ophthalmology & Visual Science, 2017
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.
Berendse K et al.
Orphanet Journal of Rare Diseases, 2014
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR et al.
Biochimica Et Biophysica Acta, 2012
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.
Ebberink MS et al.
Journal of Medical Genetics, 2012
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