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  1. Article

    THE MOHR AND MAJEWSKI SYNDROMES: OVERLAPPING PHENOTYPES

    The Mohr syndrome (oral-facial-digital syndrome, type II) and the Majewski syndrome (a form of short rib-polydactyly) are currently described as separate dysmorphic syndromes with autosonal recessive inheritan...

    Kenneth N Rosenbaum, David L Valle, L Stefan Levin… in Pediatric Research (1977)

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    Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

    A recessive form of severe osteogenesis imperfecta that is not caused by mutations in type I collagen has long been suspected. Mutations in human CRTAP (cartilage-associated protein) causing recessive bone diseas...

    Wayne A Cabral, Weizhong Chang, Aileen M Barnes, MaryAnn Weis… in Nature Genetics (2007)

  3. Article

    Correction: Corrigendum: Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

    Nat. Genet. 39, 359–365 (2007); published online 4 February 2007; corrected after print 26 June 2008 In the version of this article initially published, the nucleotide positions of the mutations in the LEPRE1 ...

    Wayne A Cabral, Weizhong Chang, Aileen M Barnes, MaryAnn Weis… in Nature Genetics (2008)

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