Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia

Hereditary hyperuricemia may occur as part of a syndromic disorder or as an isolated nonsyndromic disease, and over 20 causative genes have been identified. Here, we report the use of whole genome sequencing (WGS) to establish a diagnosis in a family in which individuals were affected with gout, hyp...

Descripción completa

Detalles Bibliográficos
Autores principales: Stevenson, Mark, Pagnamenta, Alistair T., Reichart, Silvia, Philpott, Charlotte, Lines, Kate E., Gorvin, Caroline M., Lhotta, Karl, Taylor, Jenny C., Thakker, Rajesh V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7611017/
https://www.ncbi.nlm.nih.gov/pubmed/32776440
http://dx.doi.org/10.1002/ajmg.a.61814

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7611017/
https://www.ncbi.nlm.nih.gov/pubmed/32776440
http://dx.doi.org/10.1002/ajmg.a.61814

Ejemplares similares