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Sehoon Park
Harvard University
PhenotypeGenotypeAicardi–Goutières syndromeSingleton Merten syndromeMutationGeneticsBiology
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#1Gillian I. Rice (MAHSC: Manchester Academic Health Science Centre)H-Index: 38
#2Sehoon Park (Harvard University)
Last. Yanick J. Crow (Edin.: University of Edinburgh)H-Index: 60
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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 American collaboration, we set out to describe the molecular, clinical and interferon status of a cohort of individuals with pathogenic heterozygous mutations in IFIH1. We identified 74 individuals from 51 families segregating a total of 27 like...
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