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Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the(More)
  • D Sillence
  • 1981
Our concept of osteogenesis imperfecta (OI) has expanded considerably in the last decade. Both clinical and genetic studies on the one hand and biochemical studies on the other suggest considerable pathogenetic heterogeneity. Clinically, four broad groups can be distinguished. Two groups are characterized by dominant inheritance of osseous fragility with(More)
Mucopolysaccharidosis IIID (MPS IIID) is one of the rarest of the MPS-III syndromes. To date, the clinical manifestations of 10 patients have been reported, the deficient N-acetylglucosamine 6-sulfatase (G6S) enzyme has been purified, and the G6S gene has been cloned, sequenced and localized. However, morphological manifestations of this condition have not(More)
The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse was generated that also exhibited ichthyotic skin, confirming that the skin disorder and enzyme deficiency were directly related. This paper(More)
BACKGROUND In this study we aimed to identify and review publications relating to the diagnosis of joint hypermobility and instability and develop an evidence based approach to the diagnosis of children presenting with joint hypermobility and related symptoms. METHODS We searched Medline for papers with an emphasis on the diagnosis of joint hypermobility,(More)
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