Studies of type I collagen in osteogenesis imperfecta.

doi:10.1016/s0022-3476(05)82445-x

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Article

Studies of type I collagen in osteogenesis imperfecta.

The Journal of pediatrics - 1 Jul 1990

Edwards M J, Graham J M

Abstract excerpt

We used the results of skin fibroblast type I collagen analysis to improve the accuracy of diagnosis and genetic counseling for six patients with osteogenesis imperfecta. The fibroblasts of two patients with osteogenesis imperfecta type I synthesized a reduced quantity of qualitatively normal typ...

Topics

Adult
Cells, Cultured
Child, Preschool
Collagen
Female
Fibroblasts
Genetic Counseling
Humans
Infant
Infant, Newborn
Male
Mutation
Osteogenesis Imperfecta
Prenatal Diagnosis
Prognosis
Skin

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