Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy

PURPOSE: To describe clinical and molecular findings of two families with X-linked optic atrophy and present two new pathogenic variants in the WDR45 gene. METHODS: Case series and molecular analysis of two families of Jewish Ashkenazi descent with early onset bilateral optic atrophy. Whole-exome se...

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Detalles Bibliográficos
Autores principales: Gazit, Inbal, Hecht, Idan, Weiner, Chen, Kotlyar, Alina, Almer, Zina, Bakshi, Erez, Or, Lior, Volkov, Hadas, Feldman, Barak, Maharshak, Idit, Michelson, Marina, Goldenberg-Cohen, Nitza, Pras, Eran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10573587/
https://www.ncbi.nlm.nih.gov/pubmed/37819743
http://dx.doi.org/10.1167/iovs.64.13.17

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