{"created":"2023-08-02T03:55:50.375802+00:00","id":4783,"links":{},"metadata":{"_buckets":{"deposit":"356e7842-e899-45ba-a4f5-c0d3937e280b"},"_deposit":{"created_by":10,"id":"4783","owners":[10],"pid":{"revision_id":0,"type":"depid","value":"4783"},"status":"published"},"_oai":{"id":"oai:repository.lib.tottori-u.ac.jp:00004783","sets":["1:9","2:12","23:34:993:994"]},"author_link":["2906","3096","3461","2708","17190","17191","1319","17192","17193","1455","3600","17194","17195","4733","17196","1921","17197","17198","17199","17200","17201","17202","17203"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2019-03-28","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"162","bibliographicPageStart":"159","bibliographicVolumeNumber":"62","bibliographic_titles":[{"bibliographic_title":"Yonago Acta Medica"},{"bibliographic_title":"Yonago Acta Medica","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"We report the case of a 6-year-old male who developed recurrent erythema nodosum (EN) at the age of 3 years. The patient exhibited hypertelorism, low-set ears, micrognathia, moderate intellectual disability, thin long fingers, loose anagen hair, and prominent palmoplantar wrinkles. A heterozygous single nucleotide variant in the SHOC2 gene (c.4 A > G, p.S2G) was identified. Patients with a SHOC2 mutation exhibit a unique combination of ectodermal abnormalities including darkly pigmented skin and loose anagen hair. This report is the first to describe EN in a patient with SHOC2 mutation, and to examine the patient’s hair using scanning electron microscopy. We hypothesize that the RAS/MAPK pathway is associated with the pathogenesis of cutaneous lesions in patients with SHOC2 mutations via autoinflammation and disturbance of epithelial stem cells.","subitem_description_type":"Other"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Tottori University Medical Press"}]},"item_10001_relation_14":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.33160/yam.2019.03.022","subitem_relation_type_select":"DOI"}}]},"item_10001_relation_16":{"attribute_name":"情報源","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"Yonago Acta Medica. 2019, 62(1), 159-162"}]}]},"item_10001_relation_17":{"attribute_name":"関連サイト","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"https://www.jstage.jst.go.jp/article/yam/62/1/62_2019.03.022/_article/-char/en"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://www.jstage.jst.go.jp/article/yam/62/1/62_2019.03.022/_article/-char/en","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"http://www.lib.tottori-u.ac.jp/yam/yam/yam62-1/62-1contents.html"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"http://www.lib.tottori-u.ac.jp/yam/yam/yam62-1/62-1contents.html","subitem_relation_type_select":"URI"}}]},"item_10001_rights_15":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Yonago Acta medica　編集委員会"}]},"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":"05135710","subitem_source_identifier_type":"ISSN"}]},"item_10001_text_26":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_text_value":"1346-8049"}]},"item_10001_text_32":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_value":"Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine/Department of Clinical Genetics, Tottori University Hospital"},{"subitem_text_value":"Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine"},{"subitem_text_value":"Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine"},{"subitem_text_value":"Division of Organ Pathology, Department of Pathology, School of Medicine, Tottori University Faculty of Medicine"},{"subitem_text_value":"Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine"},{"subitem_text_value":"Department of Clinical Genetics, Tottori University Hospital"},{"subitem_text_value":"Department of Clinical Genetics, Tottori University Hospital"},{"subitem_text_value":"The Development of Innovative Future Medical Treatment, Graduate School of Medical Sciences, Tottori University/KUSUNOKI - SCALE Incorporated, Yonago 683-0832, Japan, **Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine"},{"subitem_text_value":"Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine"},{"subitem_text_value":"Division of Pediatrics and Perinatology, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine"},{"subitem_text_value":"Division of Surgical Oncology, Department of Surgery, School of Medicine, Tottori University Faculty of Medicine"},{"subitem_text_value":"Division of Technical Department, Tottori University"},{"subitem_text_value":"Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University"},{"subitem_text_value":"Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine"},{"subitem_text_value":"Department of Clinical Genetics, Tottori University Hospital/Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University"},{"subitem_text_value":"Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine/Department of Clinical Genetics, Tottori University Hospital"}]},"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, School of Medicine, Tottori University Faculty of Medicine/Department of Clinical Genetics, Tottori University Hospital"},{"subitem_text_language":"en","subitem_text_value":"Division of Child Neurology, Department of Brain and Neurosciences, School of Medicine, Tottori University Faculty of Medicine"},{"subitem_text_language":"en","subitem_text_value":"Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine"},{"subitem_text_language":"en","subitem_text_value":"Division of Organ Pathology, Department of Pathology, School of Medicine, Tottori University Faculty of 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sequencing","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Noonan syndrome","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"SHOC2","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","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Recurrent Erythema Nodosum in a Child with a SHOC2 Gene 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