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Homozygous osteogenesis imperfecta unlinked to collagen I genes

โœ Scribed by Katherine Aitchison; Donald Ogilvie; Mary Honeyman; Elizabeth Thompson; Bryan Sykes

Book ID
104707551
Publisher
Springer
Year
1988
Tongue
English
Weight
626 KB
Volume
78
Category
Article
ISSN
0340-6717

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โœ Kwang-Soo Lee; Hae-Ryong Song; Tae-Joon Cho; Hyon J. Kim; Tae-Mi Lee; Hyun-Seok ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 170 KB

## Communicated by Richard G.H. Cotton Mutations in the type I collagen genes COL1A1 and COL1A2 are responsible for the dominantly inherited connective tissue disorder osteogenesis imperfecta (OI). The severity of OI is diverse, ranging from perinatal lethality to a very mild phenotype that is cha