| Item type |
文献 / Documents(1) |
| 公開日 |
2021-02-03 |
| アクセス権 |
|
|
アクセス権 |
open access |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版社版DOI |
|
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1038/hgv.2016.6 |
|
|
言語 |
ja |
|
|
関連名称 |
10.1038/hgv.2016.6 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
|
|
タイトル |
Detection of 1p36 deletion by clinical exome-first diagnostic approach |
|
言語 |
en |
| タイトル別表記 |
|
|
その他のタイトル |
Chromosome 1p36 deletion syndrome detected by NGS |
|
言語 |
en |
| 著者 |
ワタナベ, ミキ
早渕, 康信
オノ, アケミ
成戸, 卓也
堀川, 秀昌
コウモト, トモヒロ
増田, 清士
中川, 竜二
伊藤, 弘道
香美, 祥二
井本, 逸勢
|
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis. |
|
言語 |
en |
| 書誌情報 |
en : Human Genome Variation
巻 3,
p. 16006,
発行日 2016-05-12
|
| 収録物ID |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
2054345X |
| 出版者 |
|
|
出版者 |
Springer Nature |
|
言語 |
en |
| 権利情報 |
|
|
言語 |
en |
|
権利情報 |
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/ |
| EID |
|
|
識別子 |
325306 |
|
識別子タイプ |
URI |
| 言語 |
|
|
言語 |
eng |
hgv_3_16006.pdf (623 KB)
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