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 journalArticlepeer-review

21 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

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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