Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases

BACKGROUND: Haploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia. 11p13 microdeletions altering PAX6 or its downstream regulatory region (DRR) are present in about 25% of patients; however, only a...

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Detalles Bibliográficos
Autores principales: Damián, Alejandra, Núñez-Moreno, Gonzalo, Jubin, Claire, Tamayo, Alejandra, de Alba, Marta Rodríguez, Villaverde, Cristina, Fund, Cédric, Delépine, Marc, Leduc, Aurélie, Deleuze, Jean François, Mínguez, Pablo, Ayuso, Carmen, Corton, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236743/
https://www.ncbi.nlm.nih.gov/pubmed/37269011
http://dx.doi.org/10.1186/s40246-023-00490-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236743/
https://www.ncbi.nlm.nih.gov/pubmed/37269011
http://dx.doi.org/10.1186/s40246-023-00490-8

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