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Osteogenesis Imperfecta

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Osteogenesis imperfecta (OI) is a generalized, hereditary disorder of connective tissue involving bone, tendon, ligament, fascia, and dentin, resulting from mutations affecting the amount or structure of type I collagen. OI affects about 1 in 10,000 individuals.

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2015). Osteogenesis Imperfecta. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_185-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_185-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

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