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Article

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

Journal of applied genetics - 1 Nov 2017

Rydzanicz Małgorzata, Stradomska Teresa Joanna, Jurkiewicz Elżbieta, Jamroz Ewa, Gasperowicz Piotr, Kostrzewa Grażyna, Płoski Rafał, Tylki-Szymańska Anna

Abstract excerpt

Zellweger syndrome (ZS) is a consequence of a peroxisome biogenesis disorder (PBD) caused by the presence of a pathogenic mutation in one of the 13 genes from the PEX family. ZS is a severe multisystem condition characterized by neonatal appearance of symptoms and a shorter life. Here, we report a case of ZS with a mild phenotype, due to a novel PEX6 gene mutation. The patient presented subtle craniofacial...

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Identifiers

PMID: 29047053
DOI: 10.1007/s13353-017-0414-5

Genes

PEX6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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