Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant

We present a long-term follow-up in autosomal dominant gyrate atrophy-like choroidal dystrophy (adGALCD) and propose a possible genotype/phenotype correlation. Ophthalmic examination of six patients from two families revealed confluent areas of choroidal atrophy resembling gyrate atrophy, starting i...

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Detalles Bibliográficos
Autores principales: Kellner, Ulrich, Weisschuh, Nicole, Weinitz, Silke, Farmand, Ghazaleh, Deutsch, Sebastian, Kortüm, Friederike, Mazzola, Pascale, Schäferhoff, Karin, Marino, Valerio, Dell’Orco, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7923301/
https://www.ncbi.nlm.nih.gov/pubmed/33669876
http://dx.doi.org/10.3390/ijms22042089

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