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Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.

European journal of medical genetics - 1 Apr 2023

Leung Marco L, Woodhull Whitney, Uggenti Carolina, Schord Shauna, Mato Raul Perez, Rodriguez Diana P, Ream Margie, Crow Yanick J, Mori Mari

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is a progressive multisystem disorder including encephalopathy with significant impacts on intellectual and physical abilities. An early diagnosis is becoming ever more crucial, as targeted therapies are emerging. A deep understanding of the molecular heterogeneity of AGS can help guide the early diagnosis and clinical management of patients, and inform recurrence risks. Here, we...

Topics

Humans
Mutation
Autoimmune Diseases of the Nervous System
Nervous System Malformations
Exome

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36775013
DOI: 10.1016/j.ejmg.2023.104731

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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