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Chondrodysplasia Punctata, Conradi-Hünermann Type

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Abnormal Skeletal Phenotypes
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Bibliography

  • Andersen PE Jr, Justesen P. Chondrodysplasia punctata. Report of two cases. Skeletal Radiol 1987; 16: 223–6

    Article  PubMed  Google Scholar 

  • Bergstrom K, Gustavson KH, Jorulf H. Chrondrodysplasia calcificans congenita (Conradi’s disease) in a mother and her child. Clin Genet 1972; 3: 158–61

    CAS  PubMed  Google Scholar 

  • Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet 1999; 22: 291–4

    CAS  PubMed  Google Scholar 

  • Canepa G, Maroteaux P, Pietrogrande V. Sindromi dismorfiche e malattie costituzionali dello scheletro. Piccin, Padova, 1996

    Google Scholar 

  • Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 1999; 22: 286–90

    Article  CAS  PubMed  Google Scholar 

  • Herman G, Kelly RI, Pureza V, Smith D, Kopacz K, Pitt J, Sutphen R, Sheffield LJ, Metzenberg AB. Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). Genet Med 2002; 4: 434–8

    CAS  PubMed  Google Scholar 

  • Kelley RI, Wilcox WG, Smith M, Kratz LE, Moser A, Rimoin DS. Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am J Med Genet 1999; 83: 213–9

    Article  CAS  PubMed  Google Scholar 

  • Poznanski AK. Punctate epiphyses: a radiological sign not a disease. Pediatr Radiol 1994; 24: 418–24

    CAS  PubMed  Google Scholar 

  • Sheffield LJ, Danks EM, Mayne V, Hutchinson LA. Chondrodysplasia punctata: 23 cases of a mild and relatively common variety. J Pediatr 1976; 89: 916–23

    CAS  PubMed  Google Scholar 

  • Spranger JW, Opitz JM, Bidder U. Heterogeneity of chondrodysplasia punctata. Humangenetik 1971; 11: 190–212

    CAS  PubMed  Google Scholar 

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© 2005 Springer-Verlag Berlin Heidelberg

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(2005). Chondrodysplasia Punctata, Conradi-Hünermann Type. In: Abnormal Skeletal Phenotypes. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-30361-8_26

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  • DOI: https://doi.org/10.1007/3-540-30361-8_26

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-67997-4

  • Online ISBN: 978-3-540-30361-9

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