Associated Papers
The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing.
Nozaki H et al.
Brain & Development, 2025
Leukoencephalopathy in Al-Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.
Masoudi M et al.
American Journal of Medical Genetics. Part A, 2020
An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome.
Alesi V et al.
American Journal of Medical Genetics. Part A, 2018
Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS.
Yamauchi T et al.
Cancer Cell, 2018
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.
Ng CK et al.
Human Molecular Genetics, 2015
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