A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformat...

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Detalles Bibliográficos
Autores principales: Yanagishita, Tomoe, Eto, Kaoru, Yamamoto-Shimojima, Keiko, Segawa, Osamu, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Sakata, Yasushi, Nagata, Satoru, 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/PMC8102537/
https://www.ncbi.nlm.nih.gov/pubmed/33958584
http://dx.doi.org/10.1038/s41439-021-00148-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8102537/
https://www.ncbi.nlm.nih.gov/pubmed/33958584
http://dx.doi.org/10.1038/s41439-021-00148-8

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