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Journal Abstract Search

226 related items for PubMed ID: 12784309

  • 41. Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
    Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M.
    Am J Med Genet A; 2018 Sep; 176(9):2009-2016. PubMed ID: 30063090
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  • 46. Spondyloepiphyseal dysplasia tarda with progressive arthropathy.
    Kaptanoğlu E, Perçin F, Perçin S, Törel-Ergür A.
    Turk J Pediatr; 2004 Sep; 46(4):380-3. PubMed ID: 15641278
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  • 48. An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.
    Menger H, Mundlos S, Becker K, Spranger J, Zabel B.
    Am J Med Genet; 1996 May 03; 63(1):80-3. PubMed ID: 8723091
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  • 49. A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa.
    Mégarbané A, Melick N, Daou L.
    Am J Med Genet A; 2004 Oct 01; 130A(2):176-80. PubMed ID: 15372527
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  • 51. Spondyloepiphyseal dysplasia.
    Vanĕk J.
    J Med Genet; 1983 Apr 01; 20(2):117-21. PubMed ID: 6405037
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  • 52. Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.
    MacDermot KD, Roth SC, Hall C, Winter RM.
    J Med Genet; 1987 Oct 01; 24(10):602-8. PubMed ID: 3681905
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  • 53. 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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  • 55. Anthropometric studies in five children and their mother with a severe form multiple epiphyseal dysplasia.
    Villarreal T, Carnevale A, Mayén DG, Takenaga R, del Castillo V.
    Am J Med Genet; 1992 Feb 15; 42(4):415-9. PubMed ID: 1609821
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  • 56. A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.
    Al-Yassin A, Calder AD, Harrison M, Lester T, Lord H, Oldridge M, Watkins S, Keen R, Wakeling EL.
    Eur J Hum Genet; 2018 Sep 15; 26(9):1288-1293. PubMed ID: 29891876
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  • 58. Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia.
    Le Merrer M, Maroteaux P.
    Pediatr Radiol; 1998 Oct 15; 28(10):771-5. PubMed ID: 9799299
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