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Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations

The Zellweger spectrum disorders (ZSDs) are known to be severe disorders with onset in the newborn period or later in childhood, frequently resulting in death during childhood or adolescence. Here, we report a case of ZSD due to mutations in the PEX2 gene, with very mild phenotype. A 51-year-old Ita...

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Detalhes bibliográficos
Main Authors: Mignarri, Andrea, Vinciguerra, Claudia, Giorgio, Antonio, Ferdinandusse, Sacha, Waterham, Hans, Wanders, Ronald, Bertini, Enrico, Dotti, Maria Teresa, Federico, Antonio
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565677/
https://ncbi.nlm.nih.gov/pubmed/23430938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_102
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