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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...

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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

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