Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation

Am J Med Genet A. 2016 Jun;170(6):1642-6. doi: 10.1002/ajmg.a.37628. Epub 2016 Mar 23.

Authors

Peter Witters¹, Luc Régal², Hans R Waterham³, Linda De Meirleir², Ronald J A Wanders³, Eva Morava¹

Affiliations

¹ Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
² Department of Pediatric Neurology and Metabolic Center, UZ Brussel, Brussels, Belgium.
³ Department of Pediatrics and Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

PMID: 27007981
DOI: 10.1002/ajmg.a.37628

No abstract available

Publication types

Letter

MeSH terms

ATPases Associated with Diverse Cellular Activities / genetics*
Child, Preschool
Cognition*
Female
Humans

Substances

ATPases Associated with Diverse Cellular Activities
PEX6 protein, human