A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

Mami Fukuma; Masaki Takagi; Tomoyuki Shimazu; Hoseki Imamura; Hiroko Yagi; Gen Nishimura; Tomonobu Hasegawa

doi:10.1297/cpe.27.193

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

Mami Fukuma, Masaki Takagi, Tomoyuki Shimazu, Hoseki Imamura, Hiroko Yagi, Gen Nishimura, Tomonobu Hasegawa

医学部

研究成果: Comment/debate › 査読

6 被引用数 (Scopus)

本文言語	English
ページ（範囲）	193-196
ページ数	4
ジャーナル	clinical pediatric endocrinology
巻	27
号	3
DOI	https://doi.org/10.1297/cpe.27.193
出版ステータス	Published - 2018

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.27.193

他のファイルとリンク

引用スタイル

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title = "A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2",

keywords = "Mutation, Spondyloepiphyseal dysplasia tarda, TRAPPC2",

author = "Mami Fukuma and Masaki Takagi and Tomoyuki Shimazu and Hoseki Imamura and Hiroko Yagi and Gen Nishimura and Tomonobu Hasegawa",

note = "Funding Information: This work was supported by a grant from the Japan Society for the Promotion of Science (16K10007), the Takeda Science Foundation, the Foundation for Growth Science, and the Japanese Society for Pediatric Endocrinology Future Development Grant supported by Novo Nordisk Pharma Ltd.",

year = "2018",

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T1 - A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

AU - Fukuma, Mami

AU - Takagi, Masaki

AU - Shimazu, Tomoyuki

AU - Imamura, Hoseki

AU - Yagi, Hiroko

AU - Nishimura, Gen

AU - Hasegawa, Tomonobu

N1 - Funding Information: This work was supported by a grant from the Japan Society for the Promotion of Science (16K10007), the Takeda Science Foundation, the Foundation for Growth Science, and the Japanese Society for Pediatric Endocrinology Future Development Grant supported by Novo Nordisk Pharma Ltd.

PY - 2018

Y1 - 2018

KW - Mutation

KW - Spondyloepiphyseal dysplasia tarda

KW - TRAPPC2

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DO - 10.1297/cpe.27.193

M3 - Comment/debate

AN - SCOPUS:85053115014

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VL - 27

SP - 193

EP - 196

JO - clinical pediatric endocrinology

JF - clinical pediatric endocrinology

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