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A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
http://hdl.handle.net/2241/00159728
http://hdl.handle.net/2241/001597282aa2fe65-c7b7-46c9-b152-64c402404c15
名前 / ファイル | ライセンス | アクション |
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HGV_6-25 (664.7 kB)
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Item type | Journal Article(1) | |||||||||||||||||
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公開日 | 2020-03-16 | |||||||||||||||||
タイトル | ||||||||||||||||||
言語 | en | |||||||||||||||||
タイトル | A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay | |||||||||||||||||
言語 | ||||||||||||||||||
言語 | eng | |||||||||||||||||
資源タイプ | ||||||||||||||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||||||||||||||
タイプ | journal article | |||||||||||||||||
著者 |
福島, 紘子
× 福島, 紘子
WEKO
204746
× 大戸, 達之× 高田, 英俊
WEKO
204463
× Ueno, Yuichi× Enokizono, Takashi× Imagawa, Kazuo× Tanaka, Mai× Sakai, Aiko× Suzuki, Hisato× Uehara, Tomoko× Takenouchi, Toshiki× Kosaki, Kenjiro |
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抄録 | ||||||||||||||||||
内容記述タイプ | Abstract | |||||||||||||||||
内容記述 | Phosphatase and tensin homolog (PTEN) plays an important role in tumor suppression. A germline mutation in the PTEN gene induces not only PTEN hamartoma tumor syndrome, including Cowden syndrome, but also macrocephaly/autism syndrome. Here, we describe a boy with macrocephaly/ autism syndrome harboring a novel missense heterozygous PTEN mutation, c.959T>C (p.Leu320Ser). Interestingly, a previously reported nonsense mutation resulting in p.Leu320X was found in Cowden syndrome patients. Our case may be suggestive of a genotype-phenotype correlation. | |||||||||||||||||
書誌情報 |
en : Human Genome Variation 巻 6, p. 25, 発行日 2019-05 |
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ISSN | ||||||||||||||||||
収録物識別子タイプ | ISSN | |||||||||||||||||
収録物識別子 | 2054-345X | |||||||||||||||||
PubMed番号 | ||||||||||||||||||
識別子タイプ | PMID | |||||||||||||||||
関連識別子 | 31149344 | |||||||||||||||||
DOI | ||||||||||||||||||
識別子タイプ | DOI | |||||||||||||||||
関連識別子 | 10.1038/s41439-019-0056-8 | |||||||||||||||||
権利 | ||||||||||||||||||
権利情報 | © The Author(s) 2019 | |||||||||||||||||
権利 | ||||||||||||||||||
権利情報 | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution andreproductionin any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a linktotheCreativeCommons license,and indicate ifchanges were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicatedotherwise in a credit line to the material. Ifmaterial 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 obtainpermission directly from the copyright holder. To view a copy of this license, visithttp://creativecommons.org/licenses/by/4.0/. | |||||||||||||||||
著者版フラグ | ||||||||||||||||||
値 | publisher | |||||||||||||||||
出版者 | ||||||||||||||||||
出版者 | SPRINGER |