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Journal Abstract Search

207 related items for PubMed ID: 8958333

  • 1. An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.
    Radhakrishna U, Blouin JL, Solanki JV, Dhoriani GM, Antonarakis SE.
    Am J Med Genet; 1996 Dec 11; 66(2):209-15. PubMed ID: 8958333
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  • 4. Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.
    Semerci CN, Demirkan F, Ozdemir M, Biskin E, Akin B, Bagci H, Akarsu NA.
    Clin Genet; 2009 Jul 11; 76(1):85-90. PubMed ID: 19519794
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  • 9. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
    Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X.
    J Med Genet; 2008 Sep 11; 45(9):589-95. PubMed ID: 18417549
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  • 13. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
    Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B.
    Hum Mutat; 2010 Jan 11; 31(1):81-9. PubMed ID: 19847792
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  • 18. A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.
    Galjaard RJ, Smits AP, Tuerlings JH, Bais AG, Bertoli Avella AM, Breedveld G, de Graaff E, Oostra BA, Heutink P.
    Eur J Hum Genet; 2003 May 11; 11(5):409-15. PubMed ID: 12734547
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  • 19. Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
    Kantaputra PN, Chalidapong P.
    Am J Med Genet; 2000 Jul 17; 93(2):126-31. PubMed ID: 10869115
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  • 20. Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome.
    Xing XS, Zhu HW, Chen C, Wang SS, Luo Y, Zhang X.
    Genet Mol Res; 2014 Jan 17; 13(1):246-54. PubMed ID: 24535850
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