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
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
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