Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The initial report of five adult patients with WASF1 variant...

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Detalles Bibliográficos
Autores principales: Shimojima Yamamoto, Keiko, Yanagishita, Tomoe, Yamamoto, Hisako, Miyamoto, Yusaku, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Sakata, Yasushi, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8629972/
https://www.ncbi.nlm.nih.gov/pubmed/34845217
http://dx.doi.org/10.1038/s41439-021-00176-4

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