Article
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Investigative ophthalmology & visual science - 1 Jan 2017
Taylor Rachel L, Handley Mark T, Waller Sarah, Campbell Christopher, Urquhart Jill, Meynert Alison M, Ellingford Jamie M, Donnelly Deirdre, Wilcox Gisela, Lloyd I Chris, Mundy Helen, FitzPatrick David R, Deshpande Charu, Clayton-Smith Jill, Black Graeme C
Abstract excerpt
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...
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