{"created":"2024-02-15T07:35:28.066985+00:00","id":2001272,"links":{},"metadata":{"_buckets":{"deposit":"e6c9b8b8-6e4b-4305-87e0-49772f643ede"},"_deposit":{"created_by":10,"id":"2001272","owners":[10],"pid":{"revision_id":0,"type":"depid","value":"2001272"},"status":"published"},"_oai":{"id":"oai:repository.lib.tottori-u.ac.jp:02001272","sets":["1:9","2:12","23:34:975:1702340820571"]},"author_link":["2906","1319","28","4524","2192","1921"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2023-11-28","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicNumberOfPages":"4","bibliographicPageEnd":"466","bibliographicPageStart":"463","bibliographicVolumeNumber":"66","bibliographic_titles":[{"bibliographic_title":"Yonago Acta Medica","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Noonan syndrome is an autosomal dominant disease characterized by multi-organ disorders caused by variants of genes involved in the RAS/MAPK signaling pathway. The nine causative genes including PTPN11 and CBL have been identified. Mastocytosis is a disease characterized by mast cell proliferation in skin, bone marrow, and other organs. To date, no previous cases of Noonan syndrome with mastocytosis caused by a pathogenic CBL variant have been reported. A boy was diagnosed with Noonan syndrome at 8 months of age with facial features and minor anomaly of his body. He presented with brown nodules of 5–10 mm on his body since the age of 2 months. The patient was diagnosed with mastocytosis by a biopsy specimen from brown nodules, which showed infiltration of mast cells. Whole-exome sequencing of the parent–patient trio revealed a de novo pathogenic CBL variant. The occurrence of mastocytosis may be a cue for the analysis of the CBL gene in Noonan syndrome. The CBL gene is involved in mastocytosis and various cancers. In the case of the pathogenic variant, long-term follow-up for the risk of cancers related to the CBL variant is necessary.","subitem_description_language":"en","subitem_description_type":"Other"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Tottori University Medical Press","subitem_publisher_language":"en"}]},"item_10001_relation_16":{"attribute_name":"情報源","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"Yonago Acta Medica. 2023, 66(4), 463-466."}]}]},"item_10001_relation_17":{"attribute_name":"関連サイト","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"https://www.lib.tottori-u.ac.jp/yam/yam/yam66-4/66-4contents.html"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://www.lib.tottori-u.ac.jp/yam/yam/yam66-4/66-4contents.html","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://doi.org/10.33160/yam.2023.11.005"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.33160/yam.2023.11.005","subitem_relation_type_select":"DOI"}}]},"item_10001_rights_15":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"(C)2023 Tottori University Medical Press","subitem_rights_language":"en"}]},"item_10001_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA00892882","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"13468049","subitem_source_identifier_type":"PISSN"}]},"item_10001_text_33":{"attribute_name":"著者所属（英）","attribute_value_mlt":[{"subitem_text_language":"en","subitem_text_value":"Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University"},{"subitem_text_language":"en","subitem_text_value":"Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University"},{"subitem_text_language":"en","subitem_text_value":"Division of Clinical Genetics, Tottori University Hospital"},{"subitem_text_language":"en","subitem_text_value":"Division of Clinical Genetics, Tottori University Hospital"},{"subitem_text_language":"en","subitem_text_value":"Division of Clinical Genetics, Tottori University Hospital / Department of Fundamental Nursing, School of Health Science, Faculty of Medicine Tottori University"},{"subitem_text_language":"en","subitem_text_value":"Division of Clinical Genetics, Tottori University Hospital / Research Initiative Center, Organization"},{"subitem_text_language":"en","subitem_text_value":"Division of Dermatology, Department of Sensory and Motor Organs, Faculty of Medicine, Tottori University"},{"subitem_text_language":"en","subitem_text_value":"Department of Human Genetics, Research Institute, National Center for Global Health and Medicine / Department of Human Genetics, Yokohama City University Graduate School of Medicine"},{"subitem_text_language":"en","subitem_text_value":"Department of Human Genetics, Yokohama City University Graduate School of Medicine"},{"subitem_text_language":"en","subitem_text_value":"Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University / Division of Clinical Genetics, Tottori University Hospital"}]},"item_10001_version_type_20":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_type":"VoR"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open 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Tottori University Medical Press","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"yam66(4)_463.pdf","objectType":"fulltext","url":"https://repository.lib.tottori-u.ac.jp/record/2001272/files/yam66(4)_463.pdf"},"version_id":"b37ed33b-2f65-4ce7-bd64-3259493367f9"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"CBL gene","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"mastocytosis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Noonan syndrome","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"RAS/MAPK signaling pathway","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"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"}]},"item_title":"Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant","subitem_title_language":"en"}]},"item_type_id":"10001","owner":"10","path":["9","12","1702340820571"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2024-02-21"},"publish_date":"2024-02-21","publish_status":"0","recid":"2001272","relation_version_is_last":true,"title":["Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant"],"weko_creator_id":"10","weko_shared_id":-1},"updated":"2024-02-20T07:26:48.916109+00:00"}