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Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report
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 involvem...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664542/ https://www.ncbi.nlm.nih.gov/pubmed/36397839 http://dx.doi.org/10.1002/ccr3.6556 |