A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

BACKGROUND: Homozygous loss‐of‐function mutations in TSEN54 (tRNA splicing endonuclease subunit 54; OMIM: 608755) cause different types of pontocerebellar hypoplasias (PCH) including PCH2, PCH4, and PCH5. The study aimed to determine the possible genetic factors contributing to PCH phenotypes in two...

Descripción completa

Detalles Bibliográficos
Autores principales: Sepahvand, Afrooz, Razmara, Ehsan, Bitarafan, Fatemeh, Galehdari, Mohammad, Tavasoli, Ali Reza, Almadani, Navid, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549571/
https://www.ncbi.nlm.nih.gov/pubmed/32697043
http://dx.doi.org/10.1002/mgg3.1413

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549571/
https://www.ncbi.nlm.nih.gov/pubmed/32697043
http://dx.doi.org/10.1002/mgg3.1413

Ejemplares similares