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A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation
HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the GATA3 gene. A vascular ring has not been reported in patients with GATA3-associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the GATA3 gene.
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6928020/ https://www.ncbi.nlm.nih.gov/pubmed/31885872 http://dx.doi.org/10.1038/s41439-019-0087-1 |
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| author | Kusakawa, Moe Sato, Takeshi Hosoda, Ai Araki, Eriko Matsuzaki, Yohei Yamashita, Yukio Ishihara, Jun Inagaki, Yoshinori Uchida, Noboru Ishii, Tomohiro Hasegawa, Tomonobu |
| author_facet | Kusakawa, Moe Sato, Takeshi Hosoda, Ai Araki, Eriko Matsuzaki, Yohei Yamashita, Yukio Ishihara, Jun Inagaki, Yoshinori Uchida, Noboru Ishii, Tomohiro Hasegawa, Tomonobu |
| author_sort | Kusakawa, Moe |
| collection | PubMed |
| description | HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the GATA3 gene. A vascular ring has not been reported in patients with GATA3-associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the GATA3 gene. |
| format | Online Article Text |
| id | pubmed-6928020 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-69280202019-12-27 A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation Kusakawa, Moe Sato, Takeshi Hosoda, Ai Araki, Eriko Matsuzaki, Yohei Yamashita, Yukio Ishihara, Jun Inagaki, Yoshinori Uchida, Noboru Ishii, Tomohiro Hasegawa, Tomonobu Hum Genome Var Data Report HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the GATA3 gene. A vascular ring has not been reported in patients with GATA3-associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the GATA3 gene. Nature Publishing Group UK 2019-12-23 /pmc/articles/PMC6928020/ /pubmed/31885872 http://dx.doi.org/10.1038/s41439-019-0087-1 Text en © The Author(s) 2019 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/. |
| spellingShingle | Data Report Kusakawa, Moe Sato, Takeshi Hosoda, Ai Araki, Eriko Matsuzaki, Yohei Yamashita, Yukio Ishihara, Jun Inagaki, Yoshinori Uchida, Noboru Ishii, Tomohiro Hasegawa, Tomonobu A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation |
| title | A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation |
| title_full | A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation |
| title_fullStr | A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation |
| title_full_unstemmed | A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation |
| title_short | A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation |
| title_sort | neonatal case of hdr syndrome and a vascular ring with a novel gata3 mutation |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6928020/ https://www.ncbi.nlm.nih.gov/pubmed/31885872 http://dx.doi.org/10.1038/s41439-019-0087-1 |
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