A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant

A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant

Abstract We report a case of severe Aicardi–Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c.65-13G > A p.Glu22Valfs*5. The patient was born with pseudo-TORCH symptoms, including intracranial calcification, cataracts, and hepatosplenomegaly. F...

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Bibliographic Details
Main Authors: Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka
Format: Article
Language:English
Published: Nature Publishing Group 2024-08-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00291-y
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