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Journal Abstract Search

133 related items for PubMed ID: 23401300

  • 21. Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases.
    Herman TE, Lee BC, McAlister WH.
    Pediatr Radiol; 2002 Jun; 32(6):452-6. PubMed ID: 12029348
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  • 22. Chondrodysplasia punctata: further evidence of heterogeneity.
    Norman AM, Jivani S, Kingston HM.
    Clin Dysmorphol; 1992 Jul; 1(3):161-4. PubMed ID: 1342864
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  • 23. Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
    Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA.
    Am J Med Genet A; 2014 Apr; 164A(4):1062-8. PubMed ID: 24458983
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  • 26. [X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biology].
    Malou E, Gekas J, Troucelier-Lucas V, Mornet E, Razafimanantsoa L, Cuvelier B, Mathieu M, Thépot F.
    Arch Pediatr; 2001 Feb; 8(2):176-80. PubMed ID: 11232459
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  • 27. Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation.
    Hunter AG, Rimoin DL, Koch UM, MacDonald GJ, Cox DM, Lachman RS, Adomian G.
    Am J Med Genet; 1985 Jul; 21(3):581-9. PubMed ID: 4025390
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  • 28. Lethal chondrodysplasia punctata.
    Heselson NG, Cremin BJ, Beighton P.
    Clin Radiol; 1978 Nov; 29(6):679-84. PubMed ID: 737958
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  • 30. Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata.
    Dahl HH, Osborn AH, Hutchison WM, Thorburn DR, Sheffield LJ.
    Mol Genet Metab; 1999 Dec; 68(4):503-6. PubMed ID: 10607480
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  • 31. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
    Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G.
    Am J Med Genet A; 2003 Mar 01; 117A(2):164-8. PubMed ID: 12567415
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  • 33. [Non-rhizomelic chondrodysplasia punctata. Presentation of a clinical case].
    Livolsi P.
    Pediatr Med Chir; 1988 Mar 01; 10(6):659-61. PubMed ID: 3244547
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  • 39. Chondrodysplasia punctata with retinal colobomas: radiographic findings.
    Herman TE.
    J Perinatol; 1998 Mar 01; 18(2):152-5. PubMed ID: 9605308
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  • 40. Radiological case of the month. Dominant X-linked chondrodysplasia punctata.
    Kozlowski K, Bates EH, Young LW, Wood BP.
    Am J Dis Child; 1988 Nov 01; 142(11):1233. PubMed ID: 3177333
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