Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin
COL1A1Mutation in an Indian Child with Caffey Disease
✍ Scribed by Prajnya Ranganath; Christine M. Laine; Divya Gupta; Outi Mäkitie; Shubha R. Phadke
- Book ID
- 107599030
- Publisher
- Springer-Verlag
- Year
- 2011
- Tongue
- English
- Weight
- 112 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0019-5456
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📜 SIMILAR VOLUMES
Osteogenesis imperfecta (OI) is a heritable disease of bone characterized by low bone mass and bone fragility. Six different types of OI have been described to date, based on clinical phenotype and histological findings. The genetic defect in many patients with OI types I-IV is due to mutations in t
## Abstract The use of genome wide genotyping arrays has the potential to assess entire groups of genetic disorders in one application and has begun to emerge as an aid to diagnosis in clinical practice. Recessive families may suffer from diseases because of homozygosity of recessive alleles; homoz