Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoimmune Diseases of the Nervous System
Share to Exome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Nervous System Malformations

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.PMID 36775013Read ↗

Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutières Syndrome.Semantic proximity Read ↗

Relapsing-remitting clinical course expands the phenotype of Aicardi-Goutières syndrome.Semantic proximity Read ↗

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.Semantic proximity Read ↗

The c.529G>A (p.Ala177Thr) RNASEH2B Gene Pathogenic Variant as a First-Line Genetic Test for Aicardi-Goutières Syndrome: A Case Series of Four Moroccan Families.Semantic proximity Read ↗

RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.Semantic proximity Read ↗

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.Semantic proximity Read ↗

[Clinical report and genetic analysis of a child with Aicardi-Goutières syndrome type 3 due to compound heterozygous variants of RNASEH2C gene].Semantic proximity Read ↗

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.Semantic proximity Read ↗

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.Semantic proximity Read ↗

Systemic complications of Aicardi Goutières syndrome using real-world data.Semantic proximity Read ↗

[Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene].Semantic proximity Read ↗

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature ReviewSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.