在一名患有Kallmann综合征和前脑畸形的日本女孩中发现一种新的FGFR1错义变体。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2023-01-01 DOI:10.1297/cpe.2022-0060

Noboru Uchida, Yusuke Mizuno, Shohei Seno, Yutaro Koyama, Tsutomu Takahashi, Hironori Shibata, Satoshi Narumi, Tomonobu Hasegawa, Tomohiro Ishii

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摘要

本文章由计算机程序翻译，如有差异，请以英文原文为准。

A novel missense variant of <i>FGFR1</i> in a Japanese girl with Kallmann syndrome and holoprosencephaly.

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A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly.

Noboru Uchida1, 2, Yusuke Mizuno1, 2, Shohei Seno3, Yutaro Koyama3, Tsutomu Takahashi1, Hironori Shibata2, Satoshi Narumi2, 4, Tomonobu Hasegawa2, and Tomohiro Ishii2 1Department of Pediatrics, Saiseikai Utsunomiya Hospital, Utsunomiya, Japan 2Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 3Department of Cardiology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 4Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.