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Article

Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant.

American journal of medical genetics. Part A - 1 Sept 2011

Takagi Masaki, Hori Naoaki, Chinen Yasutsugu, Kurosawa Kenji, Tanaka Yukichi, Oku Kikuko, Sakata Hitomi, Fukuzawa Ryuji, Nishimura Gen, Spranger Jürgen, Hasegawa Tomonobu

Abstract excerpt

Osteogenesis imperfecta type IIC (OI IIC) is a rare variant of lethal OI that has been considered to be an autosomal recessive trait. Twisted, slender long bones with dense metaphyseal margins and normal vertebral bodies in OI IIC contrast with crumpled, thick long bones and multiple vertebral compression fractures in OI IIA. Here, we report on two sporadic patients with classical OI IIC and a pair of siblings,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21834035
DOI: 10.1002/ajmg.a.34152

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