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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Mignarri, Andrea, Vinciguerra, Claudia, Giorgio, Antonio, Ferdinandusse, Sacha, Waterham, Hans, Wanders, Ronald, Bertini, Enrico, Dotti, Maria Teresa, Federico, Antonio
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer Berlin Heidelberg 2012
Aiheet:
Linkit: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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