Identification of a novel heterozygous variant in the PEX26 gene in an infant: a case report
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DOI: 10.21037/tp-23-454
Abstract: Background The protein PEX26 is involved in the biogenesis and maintenance of peroxisomes, which are organelles within cells. Dysfunction of PEX26 results in peroxisome biogenesis disorders (PBDs) complementation group 8 (CG8), leading to Zellweger spectrum… read more here.
Keywords: pex26 gene; identification novel; heterozygous variant; novel heterozygous ... See more keywords