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 excerpt

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 be life-threatening if manifested in the neonatal period. CASE PRESENTATION: This study presents a unique case of a male...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Blepharoptosis
• Share to Developmental Disabilities