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

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

doi:10.1297/cpe.2022-0060

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

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

研究成果: Comment/debate › 査読

本文言語	English
ページ（範囲）	79-81
ページ数	3
ジャーナル	clinical pediatric endocrinology
巻	32
号	1
DOI	https://doi.org/10.1297/cpe.2022-0060
出版ステータス	Published - 2023

ASJC Scopus subject areas

小児科学、周産期医学および子どもの健康
内分泌学、糖尿病および代謝内科学
内分泌学

UN SDG

この成果は、次の持続可能な開発目標に貢献しています

文献へのアクセス

10.1297/cpe.2022-0060

他のファイルとリンク

引用スタイル

@article{edc311e438e9458f99c8d366bbc22d48,

title = "A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly",

keywords = "Kallmann syndrome, fibroblast growth factor receptor 1 (FGFR1), holoprosencephaly, novel variant",

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

year = "2023",

doi = "10.1297/cpe.2022-0060",

language = "English",

volume = "32",

pages = "79--81",

journal = "clinical pediatric endocrinology",

issn = "0918-5739",

publisher = "Jeff Corporation Co. Ltd",

number = "1",

}

TY - JOUR

T1 - A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly

AU - Uchida, Noboru

AU - Mizuno, Yusuke

AU - Seno, Shohei

AU - Koyama, Yutaro

AU - Takahashi, Tsutomu

AU - Shibata, Hironori

AU - Narumi, Satoshi

AU - Hasegawa, Tomonobu

AU - Ishii, Tomohiro

PY - 2023

Y1 - 2023

KW - Kallmann syndrome

KW - fibroblast growth factor receptor 1 (FGFR1)

KW - holoprosencephaly

KW - novel variant

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U2 - 10.1297/cpe.2022-0060

DO - 10.1297/cpe.2022-0060

M3 - Comment/debate

AN - SCOPUS:85147170112

SN - 0918-5739

VL - 32

SP - 79

EP - 81

JO - clinical pediatric endocrinology

JF - clinical pediatric endocrinology

IS - 1

ER -