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Journal Abstract Search

428 related items for PubMed ID: 8434618

  • 21. Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.
    Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L.
    Am J Med Genet; 1992 Aug 01; 43(6):989-95. PubMed ID: 1415350
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  • 25. Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.
    Halal F, Picard JL, Raymond-Tremblay D, de Bosset P.
    Am J Med Genet; 1982 Sep 01; 13(1):71-9. PubMed ID: 7137223
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  • 26. Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
    Tüysüz B, Ungür S.
    Am J Med Genet A; 2003 Jun 15; 119A(3):375-80. PubMed ID: 12784309
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  • 28. Association of kyphomelic dysplasia with severe combined immunodeficiency.
    Corder WT, Hummel M, Miller C, Wilson NW.
    Am J Med Genet; 1995 Jul 17; 57(4):626-9. PubMed ID: 7573142
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  • 29. New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay.
    Bagatelle R, Cassidy SB.
    Am J Med Genet; 1995 Jan 30; 55(3):367-71. PubMed ID: 7537019
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  • 31. The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings.
    Fanconi S, Issler C, Giedion A, Prader A.
    Helv Paediatr Acta; 1983 Aug 30; 38(3):267-80. PubMed ID: 6618893
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  • 32. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.
    Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH.
    Am J Med Genet; 1998 Aug 06; 78(5):468-73. PubMed ID: 9714015
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  • 33. Spondyloepimetaphyseal dysplasia and abnormal dentition in siblings: a new autosomal recessive syndrome.
    Rao V, Morton RE, Young ID.
    Clin Dysmorphol; 1997 Jan 06; 6(1):3-12. PubMed ID: 9018411
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  • 34. A second family with autosomal recessive spondylometaphyseal dysplasia and early death.
    Mégarbané A, Mehawej C, El Zahr A, Haddad S, Cormier-Daire V.
    Am J Med Genet A; 2014 Apr 06; 164A(4):1010-4. PubMed ID: 24458487
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  • 35. Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.
    Chitayat D, Gruber H, Mullen BJ, Pauzner D, Costa T, Lachman R, Rimoin DL.
    Am J Med Genet; 1993 Aug 15; 47(2):272-7. PubMed ID: 8213919
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  • 36. Spondyloperipheral dysplasia.
    Sorge G, Ruggieri M, Lachman RS.
    Am J Med Genet; 1995 Nov 06; 59(2):139-42. PubMed ID: 8588574
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  • 37. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
    Mansouri M, Kayserili H, Elalaoui SC, Nishimura G, Iida A, Lyahyai J, Miyake N, Matsumoto N, Sefiani A, Ikegawa S.
    Am J Med Genet A; 2016 Feb 06; 170A(2):460-465. PubMed ID: 26463668
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  • 38. Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature.
    Trajkovski Z, Vrcakovski M, Saveski J, Gucev ZS.
    Am J Med Genet; 2002 Sep 01; 111(4):415-9. PubMed ID: 12210303
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  • 39. [Bone dysplasia with dwarfism and diffuse skeletal alterations].
    Piussan C, Maroteaux P, Castroviejo I, Risbourg B.
    Arch Fr Pediatr; 1975 Sep 01; 32(6):541-50. PubMed ID: 1080993
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  • 40. Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome?
    Mégarbané A, Abi Moussa M.
    Genet Couns; 1997 Sep 01; 8(2):127-32. PubMed ID: 9219011
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