Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

BACKGROUND: Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a high impact on the quality of life and life expectancy of patients, which are in...

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Detalles Bibliográficos
Autores principales: Raggio, Víctor, Dell’Oca, Nicolas, Simoes, Camila, Tapié, Alejandra, Medici, Conrado, Costa, Gonzalo, Rodriguez, Soledad, Greif, Gonzalo, Garrone, Estefania, Rovella, María Laura, Gonzalez, Virgina, Halty, Margarita, González, Gabriel, Shin, Jong-Yeon, Shin, Sang-Yoon, Kim, Changhoon, Seo, Jeong-Sun, Graña, Martin, Naya, Hugo, Spangenberg, Lucia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8108437/
https://www.ncbi.nlm.nih.gov/pubmed/33971976
http://dx.doi.org/10.1186/s40246-021-00328-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8108437/
https://www.ncbi.nlm.nih.gov/pubmed/33971976
http://dx.doi.org/10.1186/s40246-021-00328-1

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