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

School of Medicine

Research output: Contribution to journal › Comment/debate › peer-review

6 Citations (Scopus)

Original language	English
Pages (from-to)	193-196
Number of pages	4
Journal	clinical pediatric endocrinology
Volume	27
Issue number	3
DOIs	https://doi.org/10.1297/cpe.27.193
Publication status	Published - 2018

Keywords

Mutation
Spondyloepiphyseal dysplasia tarda
TRAPPC2

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Endocrinology, Diabetes and Metabolism
Endocrinology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1297/cpe.27.193

Cite this

@article{f31e3523ca1649c794c76f8adfef84ef,

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",

doi = "10.1297/cpe.27.193",

language = "English",

volume = "27",

pages = "193--196",

journal = "clinical pediatric endocrinology",

issn = "0918-5739",

publisher = "Jeff Corporation Co. Ltd",

number = "3",

}

TY - JOUR

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

UR - http://www.scopus.com/inward/record.url?scp=85053115014&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85053115014&partnerID=8YFLogxK

U2 - 10.1297/cpe.27.193

DO - 10.1297/cpe.27.193

M3 - Comment/debate

AN - SCOPUS:85053115014

SN - 0918-5739

VL - 27

SP - 193

EP - 196

JO - clinical pediatric endocrinology

JF - clinical pediatric endocrinology

IS - 3

ER -

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

Keywords

ASJC Scopus subject areas

UN SDGs

Access to Document

Other files and links

Cite this