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Journal Abstract Search

93 related items for PubMed ID: 6683929

  • 1. The Börjeson-Forssman-Lehmann syndrome.
    Robinson LK, Jones KL, Culler F, Nyhan WL, Sakati N, Jones KL.
    Am J Med Genet; 1983 Jul; 15(3):457-68. PubMed ID: 6683929
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  • 2. Börjeson-Forssman-Lehmann syndrome: further delineation in five cases.
    Ardinger HH, Hanson JW, Zellweger HU.
    Am J Med Genet; 1984 Dec; 19(4):653-64. PubMed ID: 6517094
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  • 3. Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.
    Turner G, Gedeon A, Mulley J, Sutherland G, Rae J, Power K, Arthur I.
    Am J Med Genet; 1989 Dec; 34(4):463-9. PubMed ID: 2624253
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  • 4. Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
    Visootsak J, Rosner B, Dykens E, Schwartz C, Hahn K, White SM, Szeftel R, Graham JM.
    J Pediatr; 2004 Dec; 145(6):819-25. PubMed ID: 15580208
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  • 5. Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome?
    Verloes A, Gillerot Y, Delfortrie J, Zeevaert-Arnold MT, Collard R, Koulischer L, Fryns JP.
    Genet Couns; 1990 Dec; 1(3-4):219-25. PubMed ID: 2098045
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  • 6. Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.
    Mangelsdorf M, Chevrier E, Mustonen A, Picketts DJ.
    J Child Neurol; 2009 May; 24(5):610-4. PubMed ID: 19264739
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  • 7. The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
    Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M.
    Clin Genet; 2004 Mar; 65(3):226-32. PubMed ID: 14756673
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  • 8. Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.
    Carter MT, Picketts DJ, Hunter AG, Graham GE.
    Am J Med Genet A; 2009 Feb; 149A(2):246-50. PubMed ID: 19161141
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  • 11. Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.
    Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S.
    Am J Med Genet; 2002 Jul 15; 110(4):384-90. PubMed ID: 12116214
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  • 17. A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.
    Vallée D, Chevrier E, Graham GE, Lazzaro MA, Lavigne PA, Hunter AG, Picketts DJ.
    J Med Genet; 2004 Oct 15; 41(10):778-83. PubMed ID: 15466013
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  • 18. Phenotypic discordance in monozygotic twins with 22q11.2 deletion.
    Yamagishi H, Ishii C, Maeda J, Kojima Y, Matsuoka R, Kimura M, Takao A, Momma K, Matsuo N.
    Am J Med Genet; 1998 Jul 24; 78(4):319-21. PubMed ID: 9714432
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  • 19. The Börjeson-Forssman-Lehmann syndrome: a new case.
    Veall RM, Brett EM, Rivinus TM, Stephens R.
    J Ment Defic Res; 1979 Dec 24; 23(4):231-42. PubMed ID: 537034
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