Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings-Reference-Cited by-同舟云学术

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

Published:2021-05-06 Issue:4 Volume:42 Page:480-485
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Herijgers Dorien¹,Denayer Ellen²,Balikova Irina¹,Witters Peter³⁴,Jacob Julie¹,Casteels Ingele¹

Affiliation:

1. Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium

2. Department of Human Genetics, University Hospital Leuven, Leuven, Belgium

3. Department of Pediatrics, Metabolic Center, University Hospital Leuven, Leuven, Belgium

4. Department of Development and Regeneration, Faculty of Medicine, KU Leuven, Leuven, Belgium

Funder

no funding

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1923033

Reference13 articles.

1. Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs

2. Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, andPEX26mutated in Heimler syndrome

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

4. Expanding the clinical and genetic spectrum of Heimler syndrome

5. A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1;European Journal of Ophthalmology;2024-03-15

2. Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants;Journal of Pediatric Ophthalmology & Strabismus;2024-01

3. A novel compound heterozygous PEX1 variant in Heimler syndrome;Experimental Eye Research;2023-12

4. Crucial Role of microRNAs as New Targets for Amelogenesis Disorders Detection;Current Drug Targets;2023-10

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