{"_buckets": {"deposit": "0405df05-5ff6-49a5-8f4e-f0f94eb89d77"}, "_deposit": {"id": "24932", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "24932"}, "status": "published"}, "_oai": {"id": "oai:nagoya.repo.nii.ac.jp:00024932"}, "item_10_biblio_info_6": {"attribute_name": "\u66f8\u8a8c\u60c5\u5831", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2017-09", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "5", "bibliographicPageEnd": "504", "bibliographicPageStart": "501", "bibliographicVolumeNumber": "30", "bibliographic_titles": [{"bibliographic_title": "PIGMENT CELL \u0026 MELANOMA RESEARCH"}]}]}, "item_10_description_4": {"attribute_name": "\u6284\u9332", "attribute_value_mlt": [{"subitem_description": "We report a patient with Waardenburg syndrome (WS) type 2 who had the unusual complication of large pigmented macules. Whole-exome sequencing revealed a previously unreported homozygous KITLG mutation to be the causative gene. KITLG defect is a rare cause of WS, with only one case having been reported previously. Interestingly, both the previously reported case and the present case had large pigmented macules (caf\u00e9-au-lait spots). Importantly, KITLG mutations are causative of another pigmentation disorder, namely familial progressive hyper- and hypopigmentation (FPHH), which may also be accompanied by pigmented macules. The KITLG mutation in the present case is adjacent to strikingly restricted hotspots of mutations causative of FPHH. Our thorough literature review revealed that large pigmented macules are a very rare symptom of WS, raising the possibility that WS caused by KITLG mutations may represent a hitherto unnoticed phenotypic subgroup. The present findings extend our knowledge of the KIT/KITLG system.", "subitem_description_type": "Abstract"}]}, "item_10_identifier_60": {"attribute_name": "URI", "attribute_value_mlt": [{"subitem_identifier_type": "DOI", "subitem_identifier_uri": "http://doi.org/10.1111/pcmr.12597"}, {"subitem_identifier_type": "HDL", "subitem_identifier_uri": "http://hdl.handle.net/2237/27154"}]}, "item_10_publisher_32": {"attribute_name": "\u51fa\u7248\u8005", "attribute_value_mlt": [{"subitem_publisher": "Wiley"}]}, "item_10_rights_12": {"attribute_name": "\u6a29\u5229", "attribute_value_mlt": [{"subitem_rights": "\"This is the peer reviewed version of the following article: [PIGMENT CELL \u0026 MELANOMA RESEARCH. v.30, n.5, 2017, p.501-504], which has been published in final form at [http://doi.org/10.1111/pcmr.12597]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.\""}]}, "item_10_select_15": {"attribute_name": "\u8457\u8005\u7248\u30d5\u30e9\u30b0", "attribute_value_mlt": [{"subitem_select_item": "author"}]}, "item_10_source_id_7": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "1755-1471", "subitem_source_identifier_type": "ISSN"}]}, "item_creator": {"attribute_name": "\u8457\u8005", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Ogawa, Yasushi"}], "nameIdentifiers": [{"nameIdentifier": "74298", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Kono, Michihiro"}], "nameIdentifiers": [{"nameIdentifier": "74299", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Akiyama, Masashi"}], "nameIdentifiers": [{"nameIdentifier": "74300", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": 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"\u30ad\u30fc\u30ef\u30fc\u30c9", "attribute_value_mlt": [{"subitem_subject": "KITLG", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Waardenburg syndrome", "subitem_subject_scheme": "Other"}, {"subitem_subject": "familial progressive hyper- and hypopigmentation", "subitem_subject_scheme": "Other"}, {"subitem_subject": "hyperpigmentation", "subitem_subject_scheme": "Other"}, {"subitem_subject": "genotype-phenotype relationship", "subitem_subject_scheme": "Other"}]}, "item_language": {"attribute_name": "\u8a00\u8a9e", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "\u8cc7\u6e90\u30bf\u30a4\u30d7", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation", "item_titles": {"attribute_name": "\u30bf\u30a4\u30c8\u30eb", "attribute_value_mlt": [{"subitem_title": "Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation"}]}, "item_type_id": "10", "owner": "1", "path": ["499/500/501"], "permalink_uri": "http://hdl.handle.net/2237/27154", "pubdate": {"attribute_name": "\u516c\u958b\u65e5", "attribute_value": "2017-12-08"}, "publish_date": "2017-12-08", "publish_status": "0", "recid": "24932", "relation": {}, "relation_version_is_last": true, "title": ["Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation"], "weko_shared_id": null}