Disease: Singleton Merten syndrome
- <em>DDX58</em>(RIG-I)-related disease is associated with tissue-specific interferon pathway activation
- <em>IFIH1</em> and <em>DDX58</em> gene variants in pediatric rheumatic diseases
- A loosened gating mechanism of RIG-I leads to autoimmune disorders
- A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutieres syndrome
- Aicardi-Goutières syndrome type 7 in a Chinese child: A case report
- Case Report: Aicardi-Goutieres Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1
- Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi-Goutieres Syndrome and Singleton-Merten Syndrome
- DDX58 variant triggers IFN-β-induced autophagy in trabecular meshwork and influences intraocular pressure
- Double-Stranded RNA Induces Mortality in an MDA5-Mediated Type I Interferonopathy Model
- Early-Age Manifestation of Singleton Merten Syndrome With Systemic Lupus Erythematosus Features: A Case Report
- Glaucoma in a patient with Singleton-Merten syndrome
- Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders
- Hereditary dentin defects with systemic diseases
- Hereditary Disorders of Cardiovascular Calcification
- Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report
- Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report
- Ruxolitinib altered IFN-β induced necroptosis of human dental pulp stem cells during osteoblast differentiation
- Singleton-Merten syndrome: A rare cause of femoral head necrosis