Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

Zellweger spectrum disorders (ZSD) constitute a group of rare autosomal recessive disorders characterized by a defect in peroxisome biogenesis due to mutations in one of 13 PEX genes. The broad clinical heterogeneity especially in late-onset presenting patients and a mild phenotype complicates and d...

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Bibliografski detalji
Izdano u:J Appl Genet
Glavni autori: Lipiński, Patryk, Stawiński, Piotr, Rydzanicz, Małgorzata, Wypchło, Maria, Płoski, Rafał, Stradomska, Teresa Joanna, Jurkiewicz, Elżbieta, Ferdinandusse, Sacha, Wanders, Ronald J. A., Vaz, Frederic M., Tylki-Szymańska, Anna
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2019
Teme:
Human Genetics • Case Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6968987/
https://ncbi.nlm.nih.gov/pubmed/31628608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-019-00523-w
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