Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene-Reference-Cited by-同舟云学术

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

Published:2016-10 Issue:10 Volume:59 Page:507-511
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference22 articles.

1. Peroxisome biogenesis disorders:Biological, clinical and pathophysiological perspectives;Braverman;Dev. Disabil. Res. Rev.,2013

2. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder;Ebberink;Hum. Mutat.,2011

3. Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs;Heimler;Am. J. Med. Genet.,1991

4. Macular dystrophy in Heimler syndrome;Lima;Ophthalmic Genet.,2011

5. A simple salting out procedure for extracting DNA from human nucleated cells;Miller;Nucleic Acids Res.,1988

Cited by 21 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. Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder;Ophthalmic Genetics;2024-04-25

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

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

4. Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases;Survey of Ophthalmology;2023-11

5. Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies;Biomolecules;2023-02-01

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