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Article

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

European journal of medical genetics - 1 Oct 2016

Ratbi Ilham, Jaouad Imane Cherkaoui, Elorch Hamza, Al-Sheqaih Nada, Elalloussi Mustapha, Lyahyai Jaber, Berraho Amina, Newman William G, Sefiani Abdelaziz

Abstract excerpt

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe...

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Share to Adenosine Triphosphatases
Share to Amelogenesis Imperfecta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATPases Associated with Diverse Cellular Activities

Share to Hearing Loss, Sensorineural

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Source

Identifiers

PMID: 27633571
DOI: 10.1016/j.ejmg.2016.09.004

Genes

PEX1
PEX6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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