Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia-Reference-Cited by-同舟云学术

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Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia

Published:2019-05-04 Issue:3 Volume:40 Page:267-275
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

O’Neil Erin¹^ORCID,Serrano Leona¹²,Scoles Drew¹,Cunningham Kayla E³,Han Grace¹,Chiang John⁴,Bennett Jean¹²,Aleman Tomas S.¹²

Affiliation:

1. Scheie Eye Institute and the Perelman Center for Advanced Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA

2. The Center for Advanced Retinal and Ocular Therapeutics, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA

3. Endocrine Associates of Connecticut, Branford, CT, USA

4. Molecular Vision Laboratory, Hillsboro, OR, USA

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1605392

Reference73 articles.

1. The Status ofRPE65Gene Therapy Trials: Safety and Efficacy

2. Hereditary Choroidal Diseases

3. Classification of the Choroidal Atrophies

4. Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization

5. Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations

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1. Cross-sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study;American Journal of Ophthalmology;2024-08

2. Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes;International Journal of Molecular Sciences;2024-05-25

3. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders;Brain;2024-05-13

4. Neuropathy target esterase activity predicts retinopathy amongPNPLA6disorders;2023-06-11

5. Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy;Cold Spring Harbor Perspectives in Medicine;2023-06-05

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