Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis-Reference-Cited by-同舟云学术

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Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis

Published:2021-11-16 Issue: Volume: Page:1-5
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Cheng Zhihang¹,Hagan Richard¹²,Yeo Damien C. M.¹^ORCID

Affiliation:

1. Alder Hey Children’s Nhs Foundation Trust, Department of Ophthalmology, Alder Hey Children’s Hospital, Liverpool, United Kingdom of Great Britain and Northern Ireland

2. Clinical Engineering Department, Royal Liverpool University Hospital, Liverpool, United Kingdom of Great Britain and Northern Ireland

Funder

associated

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1998551

Reference19 articles.

1. CRB1 mutation spectrum in inherited retinal dystrophies

2. Mutations in the CRB1 Gene Cause Leber Congenital Amaurosis

3. CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation

4. Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

5. Isolated maculopathy associated with biallelic CRB1 mutations

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