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Journal Abstract Search

248 related items for PubMed ID: 15658617

  • 1. Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?
    Stoll C, Alembik Y.
    Genet Couns; 2004; 15(4):421-8. PubMed ID: 15658617
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  • 2. Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in a girl.
    Stoll C, Alembik Y, Repetto M.
    Genet Couns; 1998; 9(2):147-52. PubMed ID: 9664212
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  • 7. Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.
    Tammachote R, Kingsuwannapong N, Tongkobpetch S, Srichomthong C, Yeetong P, Kingwatanakul P, Monico CG, Suphapeetiporn K, Shotelersuk V.
    Am J Med Genet A; 2012 Sep; 158A(9):2124-30. PubMed ID: 22821680
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  • 11. Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).
    Shim SH, Shim JS, Min K, Lee HS, Park JE, Park SH, Hwang E, Kim M.
    Gene; 2014 Jan 15; 534(1):100-6. PubMed ID: 24095776
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  • 13. Glypican 1 gene: good candidate for brachydactyly type E.
    Syrrou M, Keymolen K, Devriendt K, Holvoet M, Thoelen R, Verhofstadt K, Fryns JP.
    Am J Med Genet; 2002 Apr 01; 108(4):310-4. PubMed ID: 11920836
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  • 14. Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification.
    Herrmann J.
    Birth Defects Orig Artic Ser; 1974 Apr 01; 10(5):23-53. PubMed ID: 4469994
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  • 16. [Type C hereditary brachydactyly].
    Lorenzo Sanz G, Barrios Castellanos R, Quintana Castilla A, Corbatón Blasco J, García Lacalle C.
    Rev Clin Esp; 1989 Feb 01; 184(3):139-42. PubMed ID: 2717793
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