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ID 115129
タイトル別表記
The first Japanese MDPL case
著者
Okada, Asami Tokushima University
Kohmoto, Tomohiro Tokushima University
Yokota, Ichiro Tokushima University|Shikoku Medical Center for Children and Adults
島田, 亜紀 Shikoku Medical Center for Children and Adults|Tokushima University
Miyamoto, Yoko Tokushima University
Takahashi, Rizu Tokushima University
資料タイプ
学術雑誌論文
抄録
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by heterozygous POLD1 mutations. To date, 13 patients affected by POLD1 mutation-caused MDPL have been described. We report a clinically undiagnosed 11-year-old male who noted joint contractures at 6 years of age. Targeted exome sequencing identified a known POLD1 mutation [NM_002691.3:c.1812_1814del, p.(Ser605del)] that diagnosed him as the first Japanese/East Asian MDPL case.
掲載誌名
Human Genome Variation
ISSN
2054345X
出版者
Springer Nature
4
開始ページ
17031
発行日
2017-08-03
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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出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
医学系
病院