<i>RP1</i>-associated recessive retinitis pigmentosa caused by paternal uniparental disomy-Reference-Cited by-同舟云学术

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RP1-associated recessive retinitis pigmentosa caused by paternal uniparental disomy

Published:2022-04-28 Issue:4 Volume:43 Page:555-560
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Bedoukian Emma C.¹²,O’Neil Erin C.¹³,Aleman Tomas S.¹³⁴

Affiliation:

1. Division of Ophthalmology, Children’s Hospital of Philadelphia

2. Roberts Individualized Medical Genetics Center, Children’s Hospital of Philadelphia, Pennsylvania, USA

3. Center for Advanced Retinal and Ocular Therapeutics

4. Scheie Eye Institute at the Perelman Center for Advanced Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA

Funder

Foundation Fighting Blindness

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2062389

Reference52 articles.

1. Retinitis pigmentosa

2. Non-syndromic retinitis pigmentosa

3. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8

4. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

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