The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.

doi:10.1136/jmg.33.11.965

Article

The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.

Journal of medical genetics - 1 Nov 1996

Cole W G, Chow C W, Bateman J F, Sillence D O

Abstract excerpt

The features of a baby with lethal perinatal osteogenesis imperfecta (OI-II), resulting from the substitution of tryptophan 94 by cysteine in the carboxyl-terminal propeptide of pro alpha 1 (I) chains of type I procollagen, were studied. The limbs and torso were of normal length, shape, and propo...

Topics

Bone and Bones
Extracellular Matrix
Female
Hemorrhage
Humans
Infant, Newborn
Mutation
Osteogenesis Imperfecta
Pregnancy
Procollagen
Radiography
Skull

The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.

Abstract excerpt

Topics

Discuss the evidence