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Article

Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort.

Genes - 24 Mar 2026

AlMoallem Basamat

Abstract excerpt

Background: Heimler syndrome (HS) is a rare autosomal recessive disorder representing the mildest end of the peroxisome biogenesis disorder spectrum. It is caused by hypomorphic mutations in peroxisomal assembly genes, most commonly PEX1 and PEX6, and is characterized by sensorineural hearing loss, amelogenesis imperfecta, and retinal dystrophy. Due to phenotypic overlap with other inherited sensory disorders,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42074478
DOI: 10.3390/genes17040360
PMCID: PMC13115680

Genes

PEX6
PEX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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