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PUBMED FOR HANDHELDS

Journal Abstract Search

131 related items for PubMed ID: 24300290

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  • 4. A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
    Waryah AM, Shahzad M, Shaikh H, Sheikh SA, Channa NA, Hufnagel RB, Makhdoom A, Riazuddin S, Ahmed ZM.
    Clin Genet; 2016 Jul; 90(1):90-5. PubMed ID: 26572954
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  • 5. Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs.
    Nishimura G, Fukushima Y, Aihara T, Ohashi H, Nishimoto H, Nishimura J.
    Am J Med Genet; 1998 Apr 28; 77(1):1-7. PubMed ID: 9557884
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  • 6. Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.
    Tanteles GA, Dixit A, Dhar S, Suri M.
    Am J Med Genet A; 2013 Oct 28; 161A(10):2588-93. PubMed ID: 23918704
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  • 8. Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome.
    Braddock SR, Jones KL, Superneau DW, Jones MC.
    Am J Med Genet; 1993 Oct 01; 47(5):640-3; discussion 644. PubMed ID: 8266990
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  • 9. A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.
    Hoffman JD, Irons M, Schwartz CE, Medne L, Zackai EH.
    Am J Med Genet A; 2007 Jun 15; 143A(12):1282-6. PubMed ID: 17506099
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  • 12. [Spondylo-epiphyseal dysplasia associated with craniosynostosis, cleft palate and mental retardation. A case report].
    Herrera-Martínez AD, Estrada-Corona P.
    Invest Clin; 2010 Dec 15; 51(4):553-60. PubMed ID: 21365879
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  • 13. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.
    Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S.
    Clin Genet; 2009 Apr 15; 75(4):375-83. PubMed ID: 19320654
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  • 14. A new syndromic craniosynostosis with involvement of the spine, long bones, pelvis, and digits: molecular genetic and array analysis.
    Shanske AL, Goodrich JT, Ala-Kokko L, Levy B.
    Clin Dysmorphol; 2012 Apr 15; 21(2):69-73. PubMed ID: 22156914
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  • 19. Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
    McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P, LaRossa D, Bartlett SP, Whitaker LA, Zackai EH.
    Am J Med Genet A; 2005 Aug 01; 136A(4):358-62. PubMed ID: 16001439
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