Article
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Orphanet journal of rare diseases - 19 Jul 2022
Borgia Paola, Baldassari Simona, Pedemonte Nicoletta, Alkhunaizi Ebba, D'Onofrio Gianluca, Tortora Domenico, Calì Elisa, Scudieri Paolo, Balagura Ganna, Musante Ilaria, Diana Maria Cristina, Pedemonte Marina, Vari Maria Stella, Iacomino Michele, Riva Antonella, Chimenz Roberto, Mangano Giuseppe D, Mohammadi Mohammad Hasan, Toosi Mehran Beiraghi, Ashrafzadeh Farah, Imannezhad Shima, Karimiani Ehsan Ghayoor, Accogli Andrea, Schiaffino Maria Cristina, Maghnie Mohamad, Soler Miguel Angel, Echiverri Karl, Abrams Charles K, Striano Pasquale, Fortuna Sara, Maroofian Reza, Houlden Henry, Zara Federico, Fiorillo Chiara, Salpietro Vincenzo
Abstract excerpt
BACKGROUND: Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations. So far, defects in at least 15 PEX-genes have been implicated in Mendelian diseases, but in some of the ultra-rare ZSD subtypes genotype-phenotype correlations and disease...
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