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...

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Detalles Bibliográficos
Autores principales: Garau, Jessica, Masnada, Silvia, Dragoni, Francesca, Sproviero, Daisy, Fogolari, Federico, Gagliardi, Stella, Izzo, Giana, Varesio, Costanza, Orcesi, Simona, Veggiotti, Pierangelo, Zuccotti, Gian Vincenzo, Pansarasa, Orietta, Tonduti, Davide, Cereda, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107470/
https://www.ncbi.nlm.nih.gov/pubmed/33981319
http://dx.doi.org/10.3389/fimmu.2021.672952

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107470/
https://www.ncbi.nlm.nih.gov/pubmed/33981319
http://dx.doi.org/10.3389/fimmu.2021.672952

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