A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium-Reference-Cited by-同舟云学术

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

Published:2020-02-21 Issue:2 Volume:61 Page:29
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Jespersgaard Cathrine¹,Hey Amalie Brunbjerg¹,Ilginis Tomas²,Hjortshøj Tina Duelund¹,Fang Mingyan³,Bertelsen Mette¹,Bech Niels²,Jensen Hanne²,Larsen Lasse Jonsgaard¹,Tümer Zeynep¹⁴,Rosenberg Thomas²,Brøndum-Nielsen Karen¹,Møller Lisbeth Birk¹,Grønskov Karen¹

Affiliation:

1. Department of Clinical Genetics, Kennedy Center, Rigshospitalet, University of Copenhagen, Glostrup, Denmark

2. Department of Ophthalmology, Rigshospitalet-Glostrup, University of Copenhagen, Glostrup, Denmark

3. BGI Group, Shenzhen, China

4. Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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1. Expanding MNS1 Heterotaxy Phenotype;American Journal of Medical Genetics Part A;2024-09-05

2. Detailed phenotype and long-term follow-up of RAB28- associated cone-rod dystrophy;Ophthalmic Genetics;2024-07-02

3. Cerebral furin deficiency causes hydrocephalus in mice;Genes & Diseases;2024-05

4. Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia;Journal of Human Genetics;2023-09-05

5. Gene therapy for RAB28: What can we learn from zebrafish?;Vision Research;2023-09