Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

@article{Taylor2017NovelPM,
  title={Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature},
  author={Rachel L. Taylor and Mark T. Handley and S. Waller and Christopher Campbell and J. Urquhart and A. Meynert and J. Ellingford and D. Donnelly and G. Wilcox and I. C. Lloyd and H. Mundy and D. FitzPatrick and C. Deshpande and J. Clayton-Smith and G. Black},
  journal={Investigative ophthalmology \& visual science},
  year={2017},
  volume={58},
  pages={594 - 603}
}
Purpose Peroxisomes perform complex metabolic and catabolic functions essential for normal growth and development. Mutations in 14 genes cause a spectrum of peroxisomal disease in humans. Most recently, PEX11B was associated with an atypical peroxisome biogenesis disorder (PBD) in a single individual. In this study, we identify further PEX11B cases and delineate associated phenotypes. Methods Probands from three families underwent next generation sequencing (NGS) for diagnosis of a multisystem… Expand
Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing
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