Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene. [electronic resource]
- Brain & development Oct 2013
- 842-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1872-7131
10.1016/j.braindev.2012.10.017 doi
Adult Brain--pathology Catalase--genetics Fibroblasts--metabolism Genetic Predisposition to Disease--genetics Homozygote Humans Lipoproteins--genetics Male Membrane Proteins--genetics Mutation--genetics Peroxins Peroxisomal Disorders--diagnosis Phenotype