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Quoted phrase not found in phrase index: "Singleton-Merten syndrome 1"
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. 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 …
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 …