Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study

This study investigates the distribution of PAX6-associated congenital aniridia (AN) and WAGR syndrome across Russian Federation (RF) districts while characterizing PAX6 gene variants. We contribute novel PAX6 pathogenic variants and 11p13 chromosome region rearrangements to international databases...

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Detalles Bibliográficos
Autores principales: Vasilyeva, Tatyana A., Marakhonov, Andrey V., Voskresenskaya, Anna A., Kadyshev, Vitaly V., Sukhanova, Natella V., Minzhenkova, Marina E., Shilova, Nadezhda V., Latyshova, Alla A., Ginter, Evgeny K., Kutsev, Sergey I., Zinchenko, Rena A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671545/
https://www.ncbi.nlm.nih.gov/pubmed/38002984
http://dx.doi.org/10.3390/genes14112041

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