Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review

Defects in PEX3 are associated with a severe neonatal-lethal form of Zellweger spectrum disorder. We report two moderately affected siblings whose clinical and biochemical phenotypes expand the reported spectrum of PEX3-related disease. Genome sequencing of an adolescent male with progressive moveme...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R. Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Elsevier 2020-12-01
Σειρά:	Molecular Genetics and Metabolism Reports
Θέματα:	PEX3 Peroxisome biogenesis disorder Zellweger spectrum disorder Genome sequencing Genetic testing
Διαθέσιμο Online:	http://www.sciencedirect.com/science/article/pii/S2214426920301105
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