Article

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 update literature review

2024-08-26

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Loss-of-function mutations in <italic>PEX3</italic> have been associated with Zellweger syndrome (ZS), a severe form of peroxisome biogenesis disorders (PBD, OMIM: 601539) characterized by significant global developmental delay, muscle weakness with bilateral ptosis, cholestasis, hypotonia, and seizures. ZS can be life-threatening if manifested in the neonat...

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Literature Corpus work: 48d4ad3d-977a-568b-ac8b-345f6b69293f
DOI: 10.21203/rs.3.rs-4785114/v1

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