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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.
Abdul Murad NA et al.
Genes, 2023
36980993 (PubMed )
Supplement: genes-14-00721-s001.zip › genes-2217247-supplementary.pdf
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
Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability.
Weil D et al.
Biochemical Society Transactions, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
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
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Ahmed I et al.
Human Molecular Genetics, 2015
Select a paper to view details