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
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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. Furthermore, the patient exhibited profound intellectual...
Alternative Titles
Full title
A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ffe1d7e0e5be43fbb438ced248d6a71b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ffe1d7e0e5be43fbb438ced248d6a71b
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-024-00291-y
