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Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family 被引量:3

Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family
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摘要 Osteogenesis imperfecta (01), also known as brittle bone disease or Lobstein syndrome, is characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures. Based on clinical, genetic, and radiological features, Sillence et al. classified the OI into four subtypes including type I: Mild, common, with blue sclera; type Ⅱ: Perinatal lethal form; type Ⅲ: Severe and age-related progressive detbrmity, with normal sclera; and type Ⅳ: Moderate severity with normal sclera. Osteogenesis imperfecta (01), also known as brittle bone disease or Lobstein syndrome, is characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures. Based on clinical, genetic, and radiological features, Sillence et al. classified the OI into four subtypes including type I: Mild, common, with blue sclera; type Ⅱ: Perinatal lethal form; type Ⅲ: Severe and age-related progressive detbrmity, with normal sclera; and type Ⅳ: Moderate severity with normal sclera.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2016年第1期88-91,共4页 中华医学杂志(英文版)
关键词 Collagen Type I Alpha 1 Gene Mutation Molecular Diagnosis: Osteogenesis Imperfecta Collagen Type I Alpha 1 Gene Mutation Molecular Diagnosis: Osteogenesis Imperfecta
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  • 1Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfect. J Med Genet 1979; 16: 101-16. doi: 10.11361 jmg.16.2.1 0 I.
  • 2Lindahl K, Langdahl B, Ljunggren o, Kindmark A. Treatment of osteogenesis imperfecta in adults. Eur J Endocrinol20 14; 171 :R 79-90. doi: 10.1530/EJE-14-0017.
  • 3Lund AM, Jensen BL, Nielsen LA, Skovby F. Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism. J Craniofac Genet Dev Bioi 1998;18:30-7.
  • 4Rose NJ, Mackay K, Byers PH, Dalgleish R. A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. Hum Genet 1995;95:215-8.
  • 5Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, et al. Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. Hum Mutat 2006;27:599. doi: 10.1002Ihumu.9423.

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