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Article

Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family.

Annals of clinical and laboratory science - 1 Jan 2015

Cho Sung Yoon, Lee Ji-Ho, Ki Chang-Seok, Chang Mi Sun, Jin Dong-Kyu, Han Heon-Seok

Abstract excerpt

Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by susceptibility to bone fractures ranging in severity from perinatal death to a subtle increase in fracture frequency. We report the case of a patient who appeared healthy at birth and did not experience any fractures until 12 months of age. We observed blue sclera, frequent fractures without commensurate trauma, nearly...

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PMID: 25696019

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