Skip to Main Content

Paper Details

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Invest Ophthalmol Vis Sci
20
2017
Arg199Ter, Arg46Ter, Arg79Ter, Congenital Cataract, ExomeDepth, PBD, PEX11B, PEX11B ex1-3, PEX11B ex1-3 del, Peroxisome Biogenesis Disorder 14B, Peroxisomes, atypical peroxisome biogenesis disorder, cataract, congenital cataract, copy number variants, dysmorphism, fibroblast cells, humans, multisystem developmental disorder, patient, patients, peroxisomal disease, plasmalogens, short stature, skeletal abnormalities, very long chain fatty acid
Author NameAffiliation
Alison MeynertMedical Research Council (MRC) Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh
Jamie M EllingfordThe University of Manchester, Saint Mary's Hospital
Gisela WilcoxSalford Royal Foundation NHS Trust
Helen Mundy
David R FitzPatrickMedical Research Council (MRC) Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh
Charu DeshpandeGuy's Hospital, Guy's and St. Thomas' NHS Foundation Trust
Jill Clayton-SmithThe University of Manchester, Saint Mary's Hospital, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust
Graeme C M BlackThe University of Manchester, Saint Mary's Hospital, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust
  • 1 - 8

Datasets

Release 1.2