Disease: Deafness enamel hypoplasia nail defects
- A novel compound heterozygous PEX1 variant in Heimler syndrome
- Analysis of phenotype and pathogenic variant in a case of Heimler syndrome
- Expanding the clinical and genetic spectrum of Heimler syndrome
- Food allergy in childhood (infancy to school age)
- Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss
- Heimler Syndrome
- Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
- Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in <em>PEX1</em>
- Identification of a Homozygous <em>PEX26</em> Mutation in a Heimler Syndrome Patient
- Macular dystrophy in Heimler syndrome
- Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome
- Oculodentodigital dysplasia
- Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations
- Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With <em>PEX1</em> Variants
- Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls
- Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene
- Spectrum of PEX1 and PEX6 variants in Heimler syndrome
- The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature
- Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings
- Ultra-Widefield Imaging of Retinal Flecks and Corresponding Subretinal Hyperreflective Deposits in Heimler Syndrome