Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration-Reference-Cited by-同舟云学术

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Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration

Published:2022-11-04 Issue: Volume: Page:1-5
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Wong Eva Wai Nam¹,Cheng Shirley S.W.²,Woo Tiffany T.Y.¹,Lam Robert F.¹,Lai Frank H.P.¹

Affiliation:

1. Department of Ophthalmology, Caritas Medical Centre, Sham Shui Po, Hong Kong

2. Department of Health, Clinical Genetic Service, Hong Kong, Hong Kong

Funder

no funding

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2135107

Reference17 articles.

1. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

2. Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome

3. Pigmentary Degeneration of the Retina in the Hallervorden-Spatz Syndrome

4. Ocular Clinicopathologic Correlation of Hallervorden-Spatz Syndrome with Acanthocytosis and Pigmentary Retinopathy

5. Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome)

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