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Quoted phrase not found in phrase index: "Singleton-Merten syndrome 1"
Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14.
Hum Mutat. 2020.
PMID: 31898846
Free PMC article.
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutieres syndrome and Singleton Merten syndrome. Ascertaining patients through a European and North Amer …
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes incl …
DDX58 and Classic Singleton-Merten Syndrome.
Ferreira CR, Crow YJ, Gahl WA, Gardner PJ, Goldbach-Mansky R, Hur S, de Jesús AA, Nehrebecky M, Park JW, Briggs TA.
Ferreira CR, et al.
J Clin Immunol. 2019 Jan;39(1):75-80. doi: 10.1007/s10875-018-0572-1. Epub 2018 Dec 20.
J Clin Immunol. 2019.
PMID: 30574673
Free PMC article.
PURPOSE: Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic …
PURPOSE: Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skelet …
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Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.
Broser P, von Mengershausen U, Heldt K, Bartholdi D, Braun D, Wolf C, Lee-Kirsch MA.
Broser P, et al.
Pediatr Rheumatol Online J. 2022 Apr 11;20(1):24. doi: 10.1186/s12969-022-00686-7.
Pediatr Rheumatol Online J. 2022.
PMID: 35410415
Free PMC article.
BACKGROUND: Singleton-Merten syndrome 1 (SGMRT1) is a rare type I interferonopathy caused by heterozygous mutations in the IFIH1 gene. ...Within days of treatment, psoriatic skin lesions resolved completely and the IFN signature normalized. Therapeutic effica …
BACKGROUND: Singleton-Merten syndrome 1 (SGMRT1) is a rare type I interferonopathy caused by heterozygous mutations in …
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