Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations-Reference-Cited by-同舟云学术

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations

Published:2018-04-20 Issue:3 Volume:39 Page:384-390
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Wangtiraumnuay Nutsuchar¹²^ORCID,Alnabi Waleed Abed¹,Tsukikawa Mai³,Thau Avrey³,Capasso Jenina¹,Sharony Reuven⁴,Inglehearn Chris F.⁵,Levin Alex V.¹³

Affiliation:

1. Wills Eye Hospital, Philadelphia, PA, USA

2. Department of Ophthalmology, Queen Sirikit National Institute of Child Health, Bangkok, Thailand

3. Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA

4. The Genetic Institute and Obstetrics and Gynecology Department, Meir Medical Center affiliated with the Sackler Faculty of Medicine, Tel Aviv University, Kfar Saba, Israel

5. Leeds Institute of Biomedical and Clinical Sciences, St. James’s University Hospital, University of Leeds, Leeds, UK

Funder

Foerderer Fund

The Robison D. Harley, MD Endowed Chair in Pediatric Ophthalmology and Ocular Genetics

RP Fighting Blindness and Fight for Sight

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2018.1432063

Reference25 articles.

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

2. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

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

4. Macular dystrophy in Heimler syndrome

Cited by 14 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. Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review;Cells;2022-06-10

4. Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome;Molecular Case Studies;2021-05-21

5. Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings;Ophthalmic Genetics;2021-05-06