Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation-Case report.
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ABSTRACT:
SUBMITTER: Nikkhah A
PROVIDER: S-EPMC9664542 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
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Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation-Case report.
Nikkhah Ali A Rezakhani Sepideh S
Clinical case reports 20221115 11
POLR3A is a main subunit encoding RNA polymerase III, which is involved in transcription of many RNA structures. Here, we report a new presentation of c.1771-6C > G intronic variant presenting as developmental regression, seizure, and dystonia in a 6-year-old boy associated with striatum involvement in the brain MRI. ...[more]
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