Associated Papers
MDA5 gain-of-function associated with a Glu794del mutation.
Wong C et al.
Journal of Clinical Immunology, 2024
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
Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.
Riou MC et al.
Frontiers in Genetics, 2022
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Piccoli C et al.
Pediatric Neurology, 2021
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI et al.
Human Mutation, 2020
Interstitial Lung Disease and Psoriasis in a Child With Aicardi-Goutières Syndrome.
Zheng S et al.
Frontiers in Immunology, 2020
[Aicardi-Goutières syndrome: Phenotypic and genetic spectrum in a series of three cases].
Moreno Medinilla EE et al.
Anales De Pediatria, 2019
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
de Carvalho LM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome.
Lu C et al.
Frontiers in Genetics, 2017
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