Sökning: "DSPP gene"

Hittade 2 avhandlingar innehållade orden DSPP gene.

  1. 1. Clinical, histopathologic and genetic diagnosis in osteogenesis imperfecta and dentinogenesis imperfecta

    Författare :Barbro Malmgren; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Agenesis; DSPP gene; histopathology; impaction; inherited disorders; teeth;

    Sammanfattning : The aims of this thesis were to investigate (1) dental aberrations in a large sample of unrelated patients with different types and forms of OI, (2) degree of dentin dysplasia in relation to type and form of OI and clinical, radiographic, and microscopic manifestations and type of DI, and (3) genotypes and phenotypes in two families with DI type II with special reference to clinical, radiographic, and histopathologic manifestations. In study I, morphological and clinical variation in the expression of DI within one family was described. LÄS MER

  3. 2. Prevalence of dentinogenesis imperfecta and dental aberrations related to genetic findings in osteogenesis imperfecta

    Författare :Kristofer Andersson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous connective tissue disorder, mainly caused by mutations in COL1A1 and COL1A2, the genes encoding collagen type I. The cardinal symptoms include bone fragility and varying degrees of growth retardation. LÄS MER