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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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
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author Ueda, Kimiko
Araki, Atsushi
Fujita, Atsushi
Matsumoto, Naomichi
Uehara, Tomoko
Suzuki, Hisato
Takenouchi, Toshiki
Kosaki, Kenjiro
Okamoto, Nobuhiko
author_facet Ueda, Kimiko
Araki, Atsushi
Fujita, Atsushi
Matsumoto, Naomichi
Uehara, Tomoko
Suzuki, Hisato
Takenouchi, Toshiki
Kosaki, Kenjiro
Okamoto, Nobuhiko
author_sort Ueda, Kimiko
collection PubMed
description 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 anomalies, autistic features, sleep disturbances, and joint hypermobility. We report a Japanese adult with a novel missense variant and two girls with de novo missense variants in DHX30.
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spelling pubmed-82137252021-07-01 A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30 Ueda, Kimiko Araki, Atsushi Fujita, Atsushi Matsumoto, Naomichi Uehara, Tomoko Suzuki, Hisato Takenouchi, Toshiki Kosaki, Kenjiro Okamoto, Nobuhiko Hum Genome Var Data Report 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 anomalies, autistic features, sleep disturbances, and joint hypermobility. We report a Japanese adult with a novel missense variant and two girls with de novo missense variants in DHX30. Nature Publishing Group UK 2021-06-18 /pmc/articles/PMC8213725/ /pubmed/34145223 http://dx.doi.org/10.1038/s41439-021-00155-9 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Ueda, Kimiko
Araki, Atsushi
Fujita, Atsushi
Matsumoto, Naomichi
Uehara, Tomoko
Suzuki, Hisato
Takenouchi, Toshiki
Kosaki, Kenjiro
Okamoto, Nobuhiko
A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
title A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
title_full A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
title_fullStr A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
title_full_unstemmed A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
title_short A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
title_sort japanese adult and two girls with nedmial caused by de novo missense variants in dhx30
topic Data Report
url 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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