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  1. C100 医学部/医学系研究科
  2. C100a 雑誌掲載論文
  3. 学術雑誌

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation

http://hdl.handle.net/2237/27154
39ee3016-7bad-4942-b328-f3382fce31f9
名前 / ファイル ライセンス アクション
TableS2.pdf TableS2.pdf ファイル公開日:2018/09/01 (51.5 kB)
TableS1.pdf TableS1.pdf ファイル公開日:2018/09/01 (22.9 kB)
FigureS3.pdf FigureS3.pdf ファイル公開日:2018/09/01 (145.7 kB)
FigureS2.pdf FigureS2.pdf ファイル公開日:2018/09/01 (70.2 kB)
FigureS1.pdf FigureS1.pdf ファイル公開日:2018/09/01 (1.4 MB)
Figure2.pdf Figure2.pdf ファイル公開日:2018/09/01 (681.4 kB)
Figure1.pdf Figure1.pdf ファイル公開日:2018/09/01 (328.1 kB)
PCMR_Ogawa.pdf PCMR_Ogawa.pdf ファイル公開日:2018/09/01 (162.8 kB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2017-12-08
タイトル
タイトル Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation
著者 Ogawa, Yasushi

× Ogawa, Yasushi

WEKO 74298

Ogawa, Yasushi

Search repository
Kono, Michihiro

× Kono, Michihiro

WEKO 74299

Kono, Michihiro

Search repository
Akiyama, Masashi

× Akiyama, Masashi

WEKO 74300

Akiyama, Masashi

Search repository
権利
権利情報 "This is the peer reviewed version of the following article: [PIGMENT CELL & 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."
キーワード
主題Scheme Other
主題 KITLG
キーワード
主題Scheme Other
主題 Waardenburg syndrome
キーワード
主題Scheme Other
主題 familial progressive hyper- and hypopigmentation
キーワード
主題Scheme Other
主題 hyperpigmentation
キーワード
主題Scheme Other
主題 genotype-phenotype relationship
抄録
内容記述 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 (café-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.
内容記述タイプ Abstract
出版者
出版者 Wiley
言語
言語 eng
資源タイプ
資源タイプresource http://purl.org/coar/resource_type/c_6501
タイプ journal article
ISSN
収録物識別子タイプ ISSN
収録物識別子 1755-1471
書誌情報 PIGMENT CELL & MELANOMA RESEARCH

巻 30, 号 5, p. 501-504, 発行日 2017-09
著者版フラグ
値 author
URI
識別子 http://doi.org/10.1111/pcmr.12597
識別子タイプ DOI
URI
識別子 http://hdl.handle.net/2237/27154
識別子タイプ HDL
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