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
10.3389/fimmu.2021.672952
Front Immunol
2021 Apr 26;12:672952.
aicardi–goutières syndrome rnaseh2b genetics next generation sequencing novel mutation
CC BY
https://pubmed.ncbi.nlm.nih.gov/33981319/
Autoimmune Diseases of the Nervous System / genetics Nervous System Malformations / genetics Ribonuclease H / genetics
Autoimmune Diseases of the Nervous System / genetics Nervous System Malformations / genetics Ribonuclease H / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Humans Infant Male Mutation ribonuclease HII Ribonuclease H Aicardi-Goutieres syndrome
PMC8107470
33981319
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutières Syndrome
2021