Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III

Hiromasa Kobayashi, Megumu Hino, Makiko Shimodahira, Toshio Iwakura, Takashi Ishihara, Katsuji Ikekubo, Yoshihiro Ogawa, Kazuwa Nakao, Hiroyuki Kurahachi

Research output: Contribution to journal › Article

20 Citations (Scopus)

Abstract

We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gn) of the TRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1.

Original languageEnglish
Pages (from-to)26-29
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume107
Issue number1
DOIs
Publication statusPublished - Jan 1 2002
Externally publishedYes

Fingerprint

Missense Mutation
Exons
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Kobayashi, H., Hino, M., Shimodahira, M., Iwakura, T., Ishihara, T., Ikekubo, K., ... Kurahachi, H. (2002). Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. American Journal of Medical Genetics, 107(1), 26-29. https://doi.org/10.1002/ajmg.10081

Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. / Kobayashi, Hiromasa; Hino, Megumu; Shimodahira, Makiko; Iwakura, Toshio; Ishihara, Takashi; Ikekubo, Katsuji; Ogawa, Yoshihiro; Nakao, Kazuwa; Kurahachi, Hiroyuki.

In: American Journal of Medical Genetics, Vol. 107, No. 1, 01.01.2002, p. 26-29.

Research output: Contribution to journal › Article

Kobayashi, H, Hino, M, Shimodahira, M, Iwakura, T, Ishihara, T, Ikekubo, K, Ogawa, Y, Nakao, K & Kurahachi, H 2002, 'Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III', American Journal of Medical Genetics, vol. 107, no. 1, pp. 26-29. https://doi.org/10.1002/ajmg.10081
Kobayashi H, Hino M, Shimodahira M, Iwakura T, Ishihara T, Ikekubo K et al. Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. American Journal of Medical Genetics. 2002 Jan 1;107(1):26-29. https://doi.org/10.1002/ajmg.10081
Kobayashi, Hiromasa ; Hino, Megumu ; Shimodahira, Makiko ; Iwakura, Toshio ; Ishihara, Takashi ; Ikekubo, Katsuji ; Ogawa, Yoshihiro ; Nakao, Kazuwa ; Kurahachi, Hiroyuki. / Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. In: American Journal of Medical Genetics. 2002 ; Vol. 107, No. 1. pp. 26-29.
@article{4bea72817e9d4e76963c0de0edd1e0f5,
title = "Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III",
abstract = "We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gn) of the TRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1.",
author = "Hiromasa Kobayashi and Megumu Hino and Makiko Shimodahira and Toshio Iwakura and Takashi Ishihara and Katsuji Ikekubo and Yoshihiro Ogawa and Kazuwa Nakao and Hiroyuki Kurahachi",
year = "2002",
month = "1",
day = "1",
doi = "10.1002/ajmg.10081",
language = "English",
volume = "107",
pages = "26--29",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III

AU - Kobayashi, Hiromasa

AU - Hino, Megumu

AU - Shimodahira, Makiko

AU - Iwakura, Toshio

AU - Ishihara, Takashi

AU - Ikekubo, Katsuji

AU - Ogawa, Yoshihiro

AU - Nakao, Kazuwa

AU - Kurahachi, Hiroyuki

PY - 2002/1/1

Y1 - 2002/1/1

N2 - We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gn) of the TRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1.

AB - We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gn) of the TRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1.

UR - http://www.scopus.com/inward/record.url?scp=0036136832&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036136832&partnerID=8YFLogxK

U2 - 10.1002/ajmg.10081

DO - 10.1002/ajmg.10081

M3 - Article

C2 - 11807863

AN - SCOPUS:0036136832

VL - 107

SP - 26

EP - 29

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 1

ER -

Access to Document