Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report
Abstract 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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-11-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6556 |