A novel stop-gain <i>NF1</i> variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas-Reference-Cited by-同舟云学术

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A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas

Published:2023-08-21 Issue: Volume: Page:1-7
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Fukunaga Naoko¹,Hayashi Takaaki¹²^ORCID,Yamada Yuki²,Mizobuchi Kei²^ORCID,Ohta Arihito³,Nakano Tadashi²

Affiliation:

1. Department of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, Tokyo, Japan

2. Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan

3. Department of Dermatology, The Jikei University School of Medicine, Tokyo, Japan

Funder

Grant-in-Aid for Scientific Research

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2245464

Reference27 articles.

1. Neurofibromatosis Type 1 Revisited

2. Ophthalmic manifestations in neurofibromatosis type 1

3. Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations

4. Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients

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1. A case of autosomal dominant optic atrophy with decreased contrast sensitivity of S-cones;JAPANESE ORTHOPTIC JOURNAL;2023

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