Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review

Abstract Background Loss-of-function mutations in PEX3 have been associated with Zellweger syndrome (ZS), a severe form of peroxisome biogenesis disorder (PBD) characterized by significant global developmental delay, muscle weakness with bilateral ptosis, cholestasis, hypotonia, and seizures. ZS can...

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Principais autores:	Jinfeng Su, Yingbo Tao, Lian Zhang, Jun Luo
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2026-01-01
Serija:	BMC Pediatrics
Teme:	Peroxisome biogenesis disorders PEX3 Zellweger spectrum disorder Newborn Whole-exome sequencing
Online dostop:	https://doi.org/10.1186/s12887-025-06472-0
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