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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Detalles Bibliográficos
Autores principales: Wang, Jiaping, Zhang, Qingping, Chen, Yan, Yu, Shujie, Wu, Xiru, Bao, Xinhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825848/
https://www.ncbi.nlm.nih.gov/pubmed/31512412
http://dx.doi.org/10.1002/mgg3.968

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