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
Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability.
Weil D et al.
Biochemical Society Transactions, 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
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