Novel RNASEH2C mutation in multiple members of a large family: insights into phenotypic spectrum of Aicardi-Goutières Syndrome

BACKGROUND: Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disorder that presents with early infantile encephalopathy. We report the clinical and molecular details of multiple members of a family with AGS secondary to a novel RNASEH2C mutation, highlighting the evolution of phenotypic ab...

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Detalles Bibliográficos
Autores principales: Lhamtsho, Dema, Rajesh, Uddandam, Saxena, Apoorv, Bhardwaj, Girish, Sondhi, Vishal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871725/
https://www.ncbi.nlm.nih.gov/pubmed/33681774
http://dx.doi.org/10.1136/bmjno-2019-000018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871725/
https://www.ncbi.nlm.nih.gov/pubmed/33681774
http://dx.doi.org/10.1136/bmjno-2019-000018

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