A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review

A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review

ObjectiveTo explore the clinical and genetic features of Aicardi-Goutières syndrome (AGS) caused by IFIH1 gene mutation.MethodsWe analyzed the clinical features and genetic mutation results of a boy with AGS type 7 and conducted a retrospective review of the literature of the characteristics and cli...

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Bibliographic Details
Main Authors: ZHAO Min, SHU Zhou, HAN Tongxin, FU Yanhua, GAO Tianji, MAO Huawei
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2024-10-01
Series:罕见病研究
Subjects:
aicardi-goutières syndrome
ifih1 gene
gene mutation
rare diseases
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.007
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https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.007

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