{"title":"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。","authors":"Noboru Uchida, Yusuke Mizuno, Shohei Seno, Yutaro Koyama, Tsutomu Takahashi, Hironori Shibata, Satoshi Narumi, Tomonobu Hasegawa, Tomohiro Ishii","doi":"10.1297/cpe.2022-0060","DOIUrl":null,"url":null,"abstract":"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","PeriodicalId":72619,"journal":{"name":"","volume":"32 1","pages":"79-81"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9c/97/cpe-32-079.PMC9887292.pdf","citationCount":"0","resultStr":"{\"title\":\"A novel missense variant of <i>FGFR1</i> in a Japanese girl with Kallmann syndrome and holoprosencephaly.\",\"authors\":\"Noboru Uchida, Yusuke Mizuno, Shohei Seno, Yutaro Koyama, Tsutomu Takahashi, Hironori Shibata, Satoshi Narumi, Tomonobu Hasegawa, Tomohiro Ishii\",\"doi\":\"10.1297/cpe.2022-0060\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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\",\"PeriodicalId\":72619,\"journal\":{\"name\":\"\",\"volume\":\"32 1\",\"pages\":\"79-81\"},\"PeriodicalIF\":0.0,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9c/97/cpe-32-079.PMC9887292.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1297/cpe.2022-0060\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1297/cpe.2022-0060","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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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