<i>CDH23</i>-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History-Reference-Cited by-同舟云学术

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CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History

Published:2024-07-17 Issue:8 Volume:65 Page:27
ISSN:1552-5783
Container-title:Investigative Ophthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

de Guimaraes Thales A. C.¹²,Robson Anthony G.¹²,de Guimaraes Isabela M. C.³,Laich Yannik¹²⁴,Aychoua Nancy¹²,Wright Genevieve¹²,Kalitzeos Angelos¹²,Mahroo Omar A.¹²,Webster Andrew R.¹²,Michaelides Michel¹²

Affiliation:

1. UCL Institute of Ophthalmology, University College London, London, United Kingdom

2. Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom

3. Universidade Sao Leopoldo Mandic, Campinas, Sao Paulo, Brazil

4. Eye Center, Faculty of Medicine, University Freiburg, Germany

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Reference43 articles.

1. Inherited causes of combined vision and hearing loss: clinical features and molecular genetics;Guimaraes;Br J Ophthalmol,2023

2. Usher syndrome: hearing loss, retinal degeneration and associated abnormalities;Mathur;Biochim Biophys Acta,2015

3. New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV;Peter;Hum Mutat,2021

4. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome;Igelman;Ophthalmic Genet,2021

5. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10;Wayne;Hum Mol Genet,1996

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