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A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformat...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8102537/ https://www.ncbi.nlm.nih.gov/pubmed/33958584 http://dx.doi.org/10.1038/s41439-021-00148-8 |
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| author | Yanagishita, Tomoe Eto, Kaoru Yamamoto-Shimojima, Keiko Segawa, Osamu Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Sakata, Yasushi Nagata, Satoru Yamamoto, Toshiyuki |
| author_facet | Yanagishita, Tomoe Eto, Kaoru Yamamoto-Shimojima, Keiko Segawa, Osamu Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Sakata, Yasushi Nagata, Satoru Yamamoto, Toshiyuki |
| author_sort | Yanagishita, Tomoe |
| collection | PubMed |
| description | A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations. In this patient, distinctive facial features gradually became apparent with age, and severe vomiting caused by gastroesophageal reflux continued even after percutaneous endoscopic gastrostomy. |
| format | Online Article Text |
| id | pubmed-8102537 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-81025372021-05-11 A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting Yanagishita, Tomoe Eto, Kaoru Yamamoto-Shimojima, Keiko Segawa, Osamu Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Sakata, Yasushi Nagata, Satoru Yamamoto, Toshiyuki Hum Genome Var Data Report A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations. In this patient, distinctive facial features gradually became apparent with age, and severe vomiting caused by gastroesophageal reflux continued even after percutaneous endoscopic gastrostomy. Nature Publishing Group UK 2021-05-06 /pmc/articles/PMC8102537/ /pubmed/33958584 http://dx.doi.org/10.1038/s41439-021-00148-8 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 Yanagishita, Tomoe Eto, Kaoru Yamamoto-Shimojima, Keiko Segawa, Osamu Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Sakata, Yasushi Nagata, Satoru Yamamoto, Toshiyuki A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting |
| title | A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting |
| title_full | A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting |
| title_fullStr | A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting |
| title_full_unstemmed | A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting |
| title_short | A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting |
| title_sort | recurrent de novo zswim6 variant in a japanese patient with severe neurodevelopmental delay and frequent vomiting |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8102537/ https://www.ncbi.nlm.nih.gov/pubmed/33958584 http://dx.doi.org/10.1038/s41439-021-00148-8 |
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