Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)-Reference-Cited by-同舟云学术

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Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)

Published:2024-05 Issue:1 Volume:142 Page:108346
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

de Barcelos Isabella Peixoto,Woidill Sarah,Gavazzi Francesco,Modesti Nicholson B.,Sevagamoorthy Anjana,Vanderver Adeline,Adang Laura

Publisher

Elsevier BV

Reference22 articles.

1. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing;Uggenti;Nat. Genet.,2020

2. Development of a neurologic severity scale for Aicardi Goutières syndrome;Adang;Mol. Genet. Metab.,2020

3. Janus kinase inhibition in the Aicardi-Goutières syndrome;Vanderver;N. Engl. J. Med.,2020

4. Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome;La Piana;Neuropediatrics.,2014

5. Developmental outcomes of Aicardi Goutières syndrome;Adang;J. Child Neurol.,2020

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