Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene-Reference-Cited by-同舟云学术

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Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene

Published:2018-11-29 Issue:1 Volume:40 Page:77-79
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Aldrees Alanoud¹²,Abdelkader Ehab¹³⁴,Al-Habboubi Hussain¹⁵,Alrwebah Huda²,Rahbeeni Zuhair⁶,Schatz Patrik¹⁷^ORCID

Affiliation:

1. Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia

2. King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia

3. Ophthalmology Department, Royal Alexandra Hospital, Paisley, UK

4. Ophthalmology Department, Menoufia University, Shebin El-Kom, Egypt

5. Ohud Hospital, Madinah, Kingdom of Saudi Arabia

6. King Faisal Hospital, Riyadh, Kingdom of Saudi Arabia

7. Department of Ophthalmology, Clinical Sciences, Skane County University Hospital, Lund University, Lund, Sweden

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2018.1551495

Reference11 articles.

1. VERTEBRAL HEMANGIOMATA..

2. Spectrum ofALMS1variants and evaluation of genotype-phenotype correlations in Alström syndrome

3. Alstrom Syndrome: Genetics and Clinical Overview

4. Alström Syndrome: Mutation Spectrum ofALMS1

5. ISCEV Standard for full-field clinical electroretinography (2015 update)

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1. Unique phenotypic–genotypic correlation in Saudi patients with ALMS1 mutations;Saudi Journal of Ophthalmology;2023-02-23

2. New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome;BMC Ophthalmology;2022-09-26

3. Retinitis Pigmentosa and Allied Diseases;Albert and Jakobiec's Principles and Practice of Ophthalmology;2022

4. Retinitis Pigmentosa and Allied Diseases;Albert and Jakobiec's Principles and Practice of Ophthalmology;2021-09-25

5. Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts;EBioMedicine;2021-08

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