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

doi:10.1002/ajmg.10081

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 › peer-review

22 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 language	English
Pages (from-to)	26-29
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	107
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.10081
Publication status	Published - Jan 1 2002
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1002/ajmg.10081

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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 › peer-review

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AU - Ishihara, Takashi

AU - Ikekubo, Katsuji

AU - Ogawa, Yoshihiro

AU - Nakao, Kazuwa

AU - Kurahachi, Hiroyuki

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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.

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

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