{"created":"2021-03-01T07:35:07.149995+00:00","id":54305,"links":{},"metadata":{"_buckets":{"deposit":"7232ea63-87d7-4837-bad9-00a230f818f0"},"_deposit":{"id":"54305","owners":[],"pid":{"revision_id":0,"type":"depid","value":"54305"},"status":"published"},"_oai":{"id":"oai:tsukuba.repo.nii.ac.jp:00054305","sets":["2780:1491","2780:5860","2780:7893","3:62:5590:7892"]},"item_5_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2019-05","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"25","bibliographicVolumeNumber":"6","bibliographic_titles":[{},{"bibliographic_title":"Human Genome Variation","bibliographic_titleLang":"en"}]}]},"item_5_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"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.","subitem_description_type":"Abstract"}]},"item_5_publisher_27":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"SPRINGER"}]},"item_5_relation_10":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"31149344","subitem_relation_type_select":"PMID"}}]},"item_5_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1038/s41439-019-0056-8","subitem_relation_type_select":"DOI"}}]},"item_5_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© The Author(s) 2019"},{"subitem_rights":"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/."}]},"item_5_select_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_5_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2054-345X","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"福島, 紘子"},{"creatorName":"フクシマ, ヒロコ","creatorNameLang":"ja-Kana"},{"creatorName":"FUKUSHIMA, Hiroko","creatorNameLang":"en"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"大戸, 達之"},{"creatorName":"オオト, タツユキ","creatorNameLang":"ja-Kana"},{"creatorName":"OHTO, Tatsuyuki","creatorNameLang":"en"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"高田, 英俊"},{"creatorName":"タカダ, ヒデトシ","creatorNameLang":"ja-Kana"},{"creatorName":"TAKADA, Hidetoshi","creatorNameLang":"en"}],"nameIdentifiers":[{},{},{}]},{"creatorNames":[{"creatorName":"Ueno, Yuichi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Enokizono, Takashi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Imagawa, Kazuo","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tanaka, Mai","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sakai, Aiko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Suzuki, Hisato","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Uehara, Tomoko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takenouchi, Toshiki","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kosaki, Kenjiro","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-03-16"}],"displaytype":"detail","filename":"HGV_6-25.pdf","filesize":[{"value":"664.7 kB"}],"format":"application/pdf","licensetype":"license_6","mimetype":"application/pdf","url":{"label":"HGV_6-25","url":"https://tsukuba.repo.nii.ac.jp/record/54305/files/HGV_6-25.pdf"},"version_id":"c72921e2-3d0f-488f-8c30-6f27338eaf5a"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay","subitem_title_language":"en"}]},"item_type_id":"5","owner":"1","path":["1491","7893","5860","7892"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-03-16"},"publish_date":"2020-03-16","publish_status":"0","recid":"54305","relation_version_is_last":true,"title":["A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay"],"weko_creator_id":"1","weko_shared_id":5},"updated":"2022-04-27T09:28:38.518950+00:00"}