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Journal Abstract Search

253 related items for PubMed ID: 5544780

  • 1. Heterogeneity of Chondrodysplasia punctata.
    Spranger JW, Opitz JM, Bidder U.
    Humangenetik; 1971; 11(3):190-212. PubMed ID: 5544780
    [No Abstract] [Full Text] [Related]

  • 2. [The congenital disease of stippled epiphyses and its ophthalmologic manifestations].
    Viallefont H, Costeau J.
    Arch Ophtalmol Rev Gen Ophtalmol; 1969; 29(6):575-86. PubMed ID: 4242359
    [No Abstract] [Full Text] [Related]

  • 3. Radiological case of the month. Dominant X-linked chondrodysplasia punctata.
    Kozlowski K, Bates EH, Young LW, Wood BP.
    Am J Dis Child; 1988 Nov; 142(11):1233. PubMed ID: 3177333
    [No Abstract] [Full Text] [Related]

  • 4. Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.
    Offiah AC, Mansour S, Jeffrey I, Nash R, Whittock N, Pyper R, Bewley S, Clayton PT, Hall CM.
    J Med Genet; 2003 Dec; 40(12):e129. PubMed ID: 14684697
    [No Abstract] [Full Text] [Related]

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  • 6. Genetics casebook. X-linked dominant chrondrodyplasia punctata without stippled epiphyses.
    Herman TE, McAlister WH, Mallory SB, Tychsen L.
    J Perinatol; 1997 Dec; 17(2):168-71. PubMed ID: 9134521
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  • 11. Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.
    Wessels MW, Den Hollander NJ, De Krijger RR, Nikkels PG, Brandenburg H, Hennekam R, Willems PJ.
    Am J Med Genet A; 2003 Jul 01; 120A(1):97-104. PubMed ID: 12794700
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  • 15. Metaphyseal dysostosis type Schmid.
    Dimson SB.
    Proc R Soc Med; 1968 Dec 12; 61(12):1260-1. PubMed ID: 5726999
    [No Abstract] [Full Text] [Related]

  • 16. Spondylo-epiphyseal dysplasia tarda: a report of four cases in two families.
    Harper PS, Jenkins P, Laurence KM.
    Br J Radiol; 1973 Sep 12; 46(549):676-84. PubMed ID: 4726118
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  • 18. Chondrodysplasia punctata: further evidence of heterogeneity.
    Norman AM, Jivani S, Kingston HM.
    Clin Dysmorphol; 1992 Jul 12; 1(3):161-4. PubMed ID: 1342864
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  • 19. Thanatophoric dwarfism.
    Kaufman RL, Rimoin DL, McAlister WH, Kissane JM.
    Am J Dis Child; 1970 Jul 12; 120(1):53-7. PubMed ID: 4987261
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