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Journal Abstract Search

248 related items for PubMed ID: 9799297

  • 1. Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.
    Kitoh H, Lachman RS, Brodie SG, Mekikian PB, Rimoin DL, Wilcox WR.
    Pediatr Radiol; 1998 Oct; 28(10):759-63. PubMed ID: 9799297
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  • 3. Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.
    Neumann L, Kunze J, Uhl M, Stöver B, Zabel B, Spranger J.
    Pediatr Radiol; 2003 Nov; 33(11):786-90. PubMed ID: 12961049
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  • 7. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
    Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S.
    J Med Genet; 2004 Jan; 41(1):75-9. PubMed ID: 14729840
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  • 13. [Description of a case of thanatophoric dysplasia with cloverleaf skull].
    Ronconi GF, Pesenti P, Mercurella A, Sassolino S.
    Pediatr Med Chir; 1986 Jan; 8(3):423-5. PubMed ID: 3786207
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  • 14. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
    Jung M, Park SH.
    Exp Mol Pathol; 2017 Apr; 102(2):290-295. PubMed ID: 28249712
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  • 15. Prevalence of lethal osteochondrodysplasias in Denmark.
    Andersen PE.
    Am J Med Genet; 1989 Apr; 32(4):484-9. PubMed ID: 2789000
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  • 20. Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.
    Zhen L, Pan M, Han J, Yang X, Liao C, Li DZ.
    J Obstet Gynaecol; 2015 Apr; 35(7):685-7. PubMed ID: 25671245
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