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Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene
BACKGROUND: This study aimed to investigate the new genetic etiologies of Rett syndrome (RTT) or Rett‐like phenotypes. METHODS: Targeted next‐generation sequencing (NGS) was performed on 44 Chinese patients with RTT or Rett‐like phenotypes, in whom genetic analysis of MECP2, CDKL5, and FOXG1 was neg...
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| Опубликовано в: : | Mol Genet Genomic Med |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
John Wiley and Sons Inc.
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6825848/ https://ncbi.nlm.nih.gov/pubmed/31512412 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.968 |
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