Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome-Reference-Cited by-同舟云学术

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

Published:2023-04 Issue:4 Volume:66 Page:104731
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference25 articles.

1. Phenotypic and molecular spectrum of Aicardi-Goutieres syndrome: a study of 24 patients;Al Mutairi;Pediatr. Neurol.,2018

2. An extremely severe case of Aicardi-Goutieres syndrome 7 with a novel variant in IFIH1;Amari;Eur. J. Med. Genet.,2020

3. Neonatal detection of Aicardi Goutieres Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots;Armangue;Mol. Genet. Metabol.,2017

4. RNase H2, mutated in Aicardi-Goutieres syndrome, promotes LINE-1 retrotransposition;Benitez-Guijarro;EMBO J.,2018

5. Spectrum of neuroradiologic findings associated with monogenic interferonopathies;Benjamin;AJNR Am J Neuroradiol,2022

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