A case of siblings with juvenile retinitis pigmentosa associated with <i>NEK1</i> gene variants-Reference-Cited by-同舟云学术

A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants

Published:2022-11-07 Issue: Volume: Page:1-6
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Hikoya Akiko¹,Hosono Katsuhiro¹,Ono Kaoru¹,Arai Shinji¹,Tachibana Nobutaka¹,Kurata Kentaro¹,Torii Kaoruko¹,Sato Miho¹,Saitsu Hirotomo²,Ogata Tsutomu²³,Hotta Yoshihiro¹^ORCID

Affiliation:

1. Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan

2. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan

3. Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan

Funder

Initiative on Rare and Undiagnosed Diseases

Japan Agency for Medical Research and Development (AMED

apan Society for the Promotion of Science Grant-in-Aid for Scientific Research

Health and Labour Sciences Research Grant of Research on Intractable Diseases

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2141788

Reference20 articles.

1. Axial spondylometaphyseal dysplasia

2. Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy

3. Axial spondylometaphyseal dysplasia: Additional reports

4. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

5. Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

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