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

Masaki Takagi; Mitsuru Matsushita; Gen Nishimura; Tomonobu Hasegawa

doi:10.1038/hgv.2014.25

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

Masaki Takagi, Mitsuru Matsushita, Gen Nishimura, Tomonobu Hasegawa

School of Medicine

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

Abstract

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.

Original language	English
Article number	14025
Journal	Human Genome Variation
Volume	1
DOIs	https://doi.org/10.1038/hgv.2014.25
Publication status	Published - 2014

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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abstract = "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.",

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AB - 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.

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

Abstract

ASJC Scopus subject areas

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