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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Ueda, Kimiko, Araki, Atsushi, Fujita, Atsushi, Matsumoto, Naomichi, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro, Okamoto, Nobuhiko
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8213725/
https://ncbi.nlm.nih.gov/pubmed/34145223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00155-9
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