Article
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.
Molecular genetics and metabolism - 1 May 2025
Cheung Anthony C T, Di Pietro Erminia, Argyriou Catherine, Bareke Eric, D'Souza Yasmin, Puri Ratna Dua, Muhammed Shabeer P, Ganetzky Rebecca, Goldstein Amy, Vanderver Adeline, Mohan Shruthi, Majewski Jacek, Yergeau Christine, Braverman Nancy
Abstract excerpt
Zellweger spectrum disorder (ZSD) results from biallelic variants in any one of 13 PEX genes involved in peroxisome biogenesis and function. The majority of ZSD cases result from pathogenic variants in PEX1. Here, we present 3 patients with suspected PEX1-related ZSD and non-diagnostic whole exome sequencing and describe the use of multiple modalities to ascertain their diagnosis. We confirmed peroxisomal...
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