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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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| Publicat a: | Hum Genome Var |
|---|---|
| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group UK
2021
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| 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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