Article
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2023
Waterham Hans R, Koster Janet, Ebberink Merel S, Ješina Pavel, Zeman Jiri, Nosková Lenka, Kmoch Stanislav, Devic Perrine, Cheillan David, Wanders Ronald J A, Ferdinandusse Sacha
Abstract excerpt
PURPOSE: Zellweger spectrum disorders (ZSDs) are known as autosomal recessive disorders caused by defective peroxisome biogenesis due to bi-allelic pathogenic variants in any of at least 13 different PEX genes. Here, we report 2 unrelated patients who present with an autosomal dominant ZSD. METHODS: We performed biochemical and genetic studies in blood and skin fibroblasts of the patients and demonstrated the...
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