Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.

Ophthalmic genetics - 1 Aug 2021

Herijgers Dorien, Denayer Ellen, Balikova Irina, Witters Peter, Jacob Julie, Casteels Ingele

Abstract excerpt

BACKGROUND: Heimler syndrome (OMIM number #234580 and #616617) is a rare condition comprising sensorineural hearing loss (SNHL), nail abnormalities and amelogenesis imperfecta. In addition, patients with this syndrome can have retinal dystrophies. Heimler syndrome is caused by bi-allelic pathogenic variants in the PEX1 or PEX6 gene. Only few patients with this syndrome have been reported. We hereby describe two...

Read the complete abstract on PubMed

Topics

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

Share to Amelogenesis Imperfecta
Share to ATPases Associated with Diverse Cellular Activities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cone-Rod Dystrophies

Share to Electroretinography

Share to Nails, Malformed

Share to Tomography, Optical Coherence

Share to Tonometry, Ocular

Share to Visual Acuity

Source

Identifiers

PMID: 33955814
DOI: 10.1080/13816810.2021.1923033

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.PMID 33955814Read ↗

Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.Semantic proximity Read ↗

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.Semantic proximity Read ↗

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.Semantic proximity Read ↗

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

Expanding the clinical and genetic spectrum of Heimler syndrome.Semantic proximity Read ↗

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.Semantic proximity Read ↗

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

A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.Semantic proximity Read ↗

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.Semantic proximity Read ↗

A review of the role of EFEMP1 in ophthalmic disease.Semantic proximity Read ↗

A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant.Semantic proximity Read ↗

Visual and ocular findings in a family with X-linked cone dysfunction and protanopia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.