<i>C1QTNF5</i> missense variant causing autosomal dominant gyrate atrophy-like choroidal dystrophy
We confirm that the c.538C>G; p.(Q180E) missense variant in the <i>C1QTNF5</i> gene may lead to adGALCD.
Authors
- Martin S. Spitzer (ORCID: https://orcid.org/0000-0002-4588-1767)
- Yevgeniya Atiskova (ORCID: https://orcid.org/0000-0003-1840-0478)
- Sarah Thiele (ORCID: https://orcid.org/0000-0002-1123-6700)
- Johannes Birtel (ORCID: https://orcid.org/0000-0001-7699-2112)
- Laurenz Pauleikhoff (ORCID: https://orcid.org/0000-0001-7671-8391)
- Denise Yang-Seeger (ORCID: https://orcid.org/0009-0007-6375-2241)
Institutions
- University of Bonn (DE)
- Universität Hamburg (DE)
- University Medical Center Hamburg-Eppendorf (DE)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-05-14
- DOI
- https://doi.org/10.1080/13816810.2025.2492037
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00