An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1-Reference-Cited by-同舟云学术

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1

Published:2020-02 Issue:2 Volume:63 Page:103646
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Amari Shoichiro,Tsukamoto Keiko,Ishiguro Akira,Yanagi Kumiko,Kaname Tadashi,Ito Yushi

Funder

Research on Intractable Disease and the Initiative on Rare and Undiagnosed Disease in Pediatrics from the Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference21 articles.

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

5. Functions of the cytoplasmic RNA sensors RIG-I and MDA-5: key regulators of innate immunity;Barral;Pharmacol. Ther.,2009

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2. Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation;Neuropediatrics;2024-05-07

3. Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1;Journal of Clinical Immunology;2023-05-01

4. Aicardi-Goutières syndrome type 7 in a Chinese child: A case report;World Journal of Clinical Cases;2023-04-16

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