Associated Papers
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.
Sepahvand A et al.
Molecular Genetics & Genomic Medicine, 2020
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.
Bierhals T et al.
European Journal of Medical Genetics, 2013
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Namavar Y et al.
Orphanet Journal of Rare Diseases, 2011
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
Namavar Y et al.
European Journal of Human Genetics : Ejhg, 2011
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