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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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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Ueda, Kimiko, Araki, Atsushi, Fujita, Atsushi, Matsumoto, Naomichi, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro, Okamoto, Nobuhiko
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2021
Matèries:
Accés en línia: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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