The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates-Reference-Cited by-同舟云学术

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The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates

Published:2020-08-11 Issue:3 Volume:184 Page:762-772
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Méjécase Cécile¹,Kozak Igor²,Moosajee Mariya¹²³⁴⁵^ORCID

Affiliation:

1. Institute of Ophthalmology University College London London UK

2. Moorfields Eye Hospitals United Arab Emirates (UAE) Dubai UAE

3. Moorfields Eye Hospital NHS Foundation Trust London UK

4. Great Ormond Street Hospital for Children NHS Trust London UK

5. The Francis Crick Institute London UK

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31824

Reference24 articles.

1. Consanguinity and Dysmorphology in Arabs

2. A founder mutation inCERKLis a major cause of retinal dystrophy in Finland

3. Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly

4. Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in theABCA4Gene

5. Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

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1. Establishment of the contribution of AGBL5 in autosomal recessive retinitis pigmentosa: Experience from an Iranian family evaluation and literature review;Gene Reports;2024-12

2. Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism;Genes;2024-06-18

3. The Clinical and Mutational Spectrum of Bardet–Biedl Syndrome in Saudi Arabia;Genes;2024-06-11

4. Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases;Current Issues in Molecular Biology;2024-05-20

5. RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily;Medicina;2024-02-01

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