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Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female

Peroxisomal biogenesis disorders (PBD) are rare autosomal recessive disorders with various degrees of severity caused by hypomorphic mutations in 13 different peroxin (PEX) genes. In this study, we report the clinical and molecular characterization of a 9-years-old female presenting an apparently is...

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Detalles Bibliográficos
Autores principales:	Barillari, Maria Rosaria, Karali, Marianthi, Di Iorio, Valentina, Contaldo, Maria, Piccolo, Vincenzo, Esposito, Maria, Costa, Giuseppe, Argenziano, Giuseppe, Serpico, Rosario, Carotenuto, Marco, Cappuccio, Gerarda, Banfi, Sandro, Melillo, Paolo, Simonelli, Francesca
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7306489/ https://www.ncbi.nlm.nih.gov/pubmed/32596134 http://dx.doi.org/10.1016/j.ymgmr.2020.100615

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