Associated Papers
A novel pathogenic mutation of DDX58 causes Singleton-Merten syndrome.
Peng S et al.
Fundamental Research, 2025
41467011 (PubMed )
Supplement: mmc1.docx
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.
Song W et al.
Journal of Medical Genetics, 2024
38964834 (PubMed )
Supplement: jmg-2024-109950supp002.xlsx › __1
Aicardi-Goutières syndrome: A monogenic type I interferonopathy.
Liu A et al.
Scandinavian Journal of Immunology, 2023
A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutières syndrome.
Hasegawa K et al.
American Journal of Medical Genetics. Part A, 2022
Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.
Riou MC et al.
Frontiers in Genetics, 2022
Systemic complications of Aicardi Goutières syndrome using real-world data.
Peixoto de Barcelos I et al.
Molecular Genetics and Metabolism, 0
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