Browsing Institutt for informatikk by Author "Oosterwyk, Chandré"

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  • Craniofacial, dental, and molecular features of Pyle disease in a South African child 
    Chetty, Manogari; Roomaney, Imaan; Oosterwyk, Chandré; Manyisa, Noluthando; Bope, Christian Domilongo; Agenbag, Gloudi; Wonkam, Ambroise (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Abstract Introduction Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone thinning ...