Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome

Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome

Aicardi–Goutières Syndrome (AGS) is a rare disorder characterized by neurological and immunological signs. In this study we have described a child with a phenotype consistent with AGS carrying a novel compound heterozygous mutation in RNASEH2B gene. Next Generation Sequencing revealed two heterozygo...

Full description

Bibliographic Details
Main Authors: Jessica Garau, Silvia Masnada, Francesca Dragoni, Daisy Sproviero, Federico Fogolari, Stella Gagliardi, Giana Izzo, Costanza Varesio, Simona Orcesi, Pierangelo Veggiotti, Gian Vincenzo Zuccotti, Orietta Pansarasa, Davide Tonduti, Cristina Cereda
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Immunology
Subjects:
Aicardi–Goutières Syndrome
next generation sequencing
RNASEH2B
genetics
novel mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.672952/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2021.672952/full

Similar Items