PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature-Reference-Cited by-同舟云学术

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PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature

Published:2024-01-08 Issue:2 Volume:45 Page:113-119
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Demir Senol¹,Sevik Mehmet Orkun²^ORCID,Ersoy Aysenur¹,Geckinli Bilgen Bilge¹,Sahin Ozlem²,Arslan Ates Esra³

Affiliation:

1. Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey

2. Department of Ophthalmology, School of Medicine,Marmara University, Istanbul, Turkey

3. Department of Medical Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Istanbul, Turkey

Funder

fundin

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2289449

Reference20 articles.

1. A novel Refsum-like disorder that maps to chromosome 20

2. Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

3. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

4. Two Novel Mutations inABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

5. Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Unilateral Cataract and Retinitis Pigmentosa in a Patient With Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome: A Case Report;Cureus;2024-02-16

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