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Clinical utility gene card for: Zellweger syndrome spectrum.

作者信息

Rosewich Hendrik, Waterham Hans, Poll-The Bwee Tien, Ohlenbusch Andreas, Gärtner Jutta

机构信息

Department of Paediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Göttingen, Germany.

Department of Pediatrics and Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Division of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.

出版信息

Eur J Hum Genet. 2015 Aug;23(8):1111-. doi: 10.1038/ejhg.2014.250. Epub 2014 Nov 19.

DOI:10.1038/ejhg.2014.250

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4795113/

Abstract

摘要

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Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene.

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Genetics and molecular basis of human peroxisome biogenesis disorders.

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