A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1

Ryotaro Torai; Teruhiko Makino; Megumi Mizawa; Yutaka Shimomura; Tadamichi Shimizu

doi:10.1684/ejd.2018.3233

A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1

Ryotaro Torai, Teruhiko Makino^*, Megumi Mizawa, Yutaka Shimomura, Tadamichi Shimizu

^*この論文の責任著者

皮膚科学講座

研究成果: ジャーナルへの寄稿 › Letter › 査読

4 被引用数 (Scopus)

本文言語	英語
ページ（範囲）	271-272
ページ数	2
ジャーナル	European Journal of Dermatology
巻	28
号	2
DOI	https://doi.org/10.1684/ejd.2018.3233
出版ステータス	出版済み - 2018/03/01

ASJC Scopus 主題領域

皮膚病学

文献へのアクセス

10.1684/ejd.2018.3233

引用スタイル

@article{526f23be2c484ec5a2ee00ef5815d51a,

title = "A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1",

author = "Ryotaro Torai and Teruhiko Makino and Megumi Mizawa and Yutaka Shimomura and Tadamichi Shimizu",

year = "2018",

month = mar,

day = "1",

doi = "10.1684/ejd.2018.3233",

language = "英語",

volume = "28",

pages = "271--272",

journal = "European Journal of Dermatology",

issn = "1167-1122",

publisher = "John Libbey",

number = "2",

}

TY - JOUR

T1 - A novel missense mutation in exon 3 of the TRPS1 gene in a patient with a mild phenotype of tricho-rhino-phalangeal syndrome type 1

AU - Torai, Ryotaro

AU - Makino, Teruhiko

AU - Mizawa, Megumi

AU - Shimomura, Yutaka

AU - Shimizu, Tadamichi

PY - 2018/3/1

Y1 - 2018/3/1

UR - http://www.scopus.com/inward/record.url?scp=85048124428&partnerID=8YFLogxK

U2 - 10.1684/ejd.2018.3233

DO - 10.1684/ejd.2018.3233

M3 - Letter

C2 - 29400302

AN - SCOPUS:85048124428

SN - 1167-1122

VL - 28

SP - 271

EP - 272

JO - European Journal of Dermatology

JF - European Journal of Dermatology

IS - 2

ER -