Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1

Masaki Takagi, Mitsuru Matsushita, Gen Nishimura, Tomonobu Hasegawa

研究成果: Article査読

3 被引用数 (Scopus)

抄録

Osteogenesis imperfecta IIC (OI IIC), which is a rare variant of lethal OI that has been considered to be an autosomal recessive trait, is characterized by twisted, slender long bones with dense metaphyseal margins. Here, we report a typical case of OI IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1. OI IIC seems to be caused by a dominant mutation of COL1A1.

本文言語English
論文番号14025
ジャーナルHuman Genome Variation
1
DOI
出版ステータスPublished - 2014

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

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