TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases-Reference-Cited by-同舟云学术

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TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases

Published:2021-12-05 Issue: Volume: Page:1-5
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Al-Hindi H.¹^ORCID,Chauhan M. Z.¹,Sanders R.¹,Samarah H.²,DeBenedictis M.³^ORCID,Traboulsi E.³^ORCID,Uwaydat S. H.¹

Affiliation:

1. Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA

2. Herbert Wertheim College of Medicine, Florida International University, Miami, Florida, USA

3. Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA

Funder

no funding

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.2010769

Reference16 articles.

1. TULP1Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones

2. NovelTULP1Mutation Causing Leber Congenital Amaurosis or Early Onset Retinal Degeneration

3. Tulp1 Is Involved in Specific Photoreceptor Protein Transport Pathways

4. The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses

5. Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice

Cited by 4 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. Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype;Frontiers in Genetics;2024-02-21

2. Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families;BMC Ophthalmology;2023-05-10

3. Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy;International Journal of Molecular Sciences;2023-01-31

4. Anti-Programmed Death Ligand-1 Induced Acute Vision Loss in a Patient With Cancer-Associated Retinopathy;Cureus;2022-01-29

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