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

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

Abstract 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 WASF...

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Autores principales: Keiko Shimojima Yamamoto, Tomoe Yanagishita, Hisako Yamamoto, Yusaku Miyamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Toshiyuki Yamamoto
Formato: article
Lenguaje:EN
Publicado: Nature Publishing Group 2021
Materias:
Genetics
QH426-470
Life
QH501-531
Acceso en línea:https://doaj.org/article/7b4b5f1712354bf28cefbb8ecf7d6500
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https://doaj.org/article/7b4b5f1712354bf28cefbb8ecf7d6500

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