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ID 115131
タイトル別表記
Lowe syndrome caused by gloss deletion
著者
Watanabe, Miki Tokushima University
Kohmoto, Tomohiro Tokushima University
資料タイプ
学術雑誌論文
抄録
Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequencing-first approach, LS was diagnosed by the identification of a deletion involving 1.7 Mb at Xq25-q26.1, encompassing the entire OCRL gene and neighboring loci.
掲載誌名
Human Genome Variation
ISSN
2054345X
出版者
Springer Nature
3
開始ページ
16037
発行日
2016-11-10
権利情報
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
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言語
eng
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部局
病院
医学系
技術支援部