CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family-Reference-Cited by-同舟云学术

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CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family

Published:2018-05-02 Issue:4 Volume:39 Page:500-507
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Kubota Daiki¹,Gocho Kiyoko¹,Kikuchi Sachiko¹,Akeo Keiichiro¹,Miura Masahiro²,Yamaki Kunihiko¹,Takahashi Hiroshi³,Kameya Shuhei¹

Affiliation:

1. Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Inzai, Japan

2. Department of Ophthalmology, Tokyo Medical University, Ibaraki Medical Center, Ibaraki, Japan

3. Department of Ophthalmology, Nippon Medical School, Bunkyo-ku, Japan

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2018.1466338

Reference31 articles.

1. Retinitis pigmentosa

2. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations

3. Genetic heterogeneity in Usher syndrome

4. Genetic Heterogeneity of Usher Syndrome

5. Mutations in the Myosin VIIA Gene Cause a Wide Phenotypic Spectrum, Including Atypical Usher Syndrome

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1. A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss;Ophthalmic Surgery, Lasers and Imaging Retina;2024-08

2. The cochlear morphology alteration and hearing loss in Cep250 knockout mice;2024-06-19

3. Exploring the diverse clinical and variant spectrum of CEP78‐associated syndrome: Novel pathogenic variants identified in a case series;American Journal of Medical Genetics Part A;2024-05-23

4. Current updates on genetic spectrum of usher syndrome;Nucleosides, Nucleotides & Nucleic Acids;2024-05-08

5. Syndromic Retinitis Pigmentosa: A 15-Patient Study;Genes;2024-04-20

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