A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30

Lessel et al. reported a novel neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) in 12 individuals and identified six different de novo heterozygous missense variants in DHX30. The other clinical features included muscular hypotonia, feeding difficulties, brain a...

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Detalles Bibliográficos
Autores principales: Ueda, Kimiko, Araki, Atsushi, Fujita, Atsushi, Matsumoto, Naomichi, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro, Okamoto, Nobuhiko
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/PMC8213725/
https://www.ncbi.nlm.nih.gov/pubmed/34145223
http://dx.doi.org/10.1038/s41439-021-00155-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213725/
https://www.ncbi.nlm.nih.gov/pubmed/34145223
http://dx.doi.org/10.1038/s41439-021-00155-9

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