Article
Identification of a novel PEX14 mutation in Zellweger syndrome.
Journal of medical genetics - 1 Jun 2008
Huybrechts S J, Van Veldhoven P P, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D
Abstract excerpt
BACKGROUND: Peroxisome biogenesis disorders are a clinically and genetically heterogeneous group of very severe autosomal recessive disorders caused by impaired peroxisome biogenesis. The prototype of this group of disorders is the cerebro-hepato-renal syndrome of Zellweger. METHODS AND RESULTS: Here we report a patient with Zellweger syndrome, who presented at the age of 3 months with icterus, dystrophy, axial...
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