Article
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
American journal of medical genetics. Part A - 1 May 2016
Marguet Florent, Laquerrière Annie, Goldenberg Alice, Guerrot Anne-Marie, Quenez Olivier, Flahaut Philippe, Vanhulle Catherine, Dumant-Forest Clémentine, Charbonnier Françoise, Vezain Myriam, Bekri Soumeya, Tournier Isabelle, Frébourg Thierry, Nicolas Gaël
Abstract excerpt
We describe the case of a young patient with calcifying encephalopathy, born to asymptomatic parents. An extensive hypothesis-driven etiological assessment was performed and failed to detect the precise etiology during many years. We therefore decided to perform whole exome sequencing of the child-unaffected parents trio. A de novo pathogenic variant in the IFIH1 gene which has recently been shown to cause...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.