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Journal Abstract Search

200 related items for PubMed ID: 1003450

  • 1. Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.
    Ventruto V, Di Girlamo R, Festa B, Romano A, Sebastio G, Sebastio L.
    J Med Genet; 1976 Oct; 13(5):394-8. PubMed ID: 1003450
    [Abstract] [Full Text] [Related]

  • 2. Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.
    Cuevas-Sosa A, García-Segur F.
    J Bone Joint Surg Br; 1971 Feb; 53(1):101-5. PubMed ID: 4325377
    [No Abstract] [Full Text] [Related]

  • 3. Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.
    Takahashi T, Takahashi I, Komatsu M, Sawaishi Y, Higashi K, Nishimura G, Saito H, Takada G.
    Clin Genet; 2001 Dec; 60(6):447-51. PubMed ID: 11846737
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  • 4. [Distal symphalangia with humeroradial synostosis, carpal synostosis and brachyphalangia of the thumb. A dominant syndrome (author's transl)].
    Lenz W, Rehmann I.
    Z Orthop Ihre Grenzgeb; 1976 Apr; 114(2):202-11. PubMed ID: 1274395
    [Abstract] [Full Text] [Related]

  • 5. Congenital stapes fixation, symphalangism and syndactylia.
    Vase P, Prytz S, Pedersen PS.
    Acta Otolaryngol; 1975 Apr; 80(5-6):394-8. PubMed ID: 173134
    [Abstract] [Full Text] [Related]

  • 6. Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression?
    Kwee ML, Lindhout D.
    Clin Genet; 1983 Sep; 24(3):200-5. PubMed ID: 6627724
    [Abstract] [Full Text] [Related]

  • 7. New skeletal dysplasia with unique brachydactyly.
    Mononen TK, Karnes PS, Senac MO, Falk RE.
    Am J Med Genet; 1992 Mar 01; 42(5):706-13. PubMed ID: 1632443
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  • 8. Distal symphalangism associated with camptodactyly.
    Ohdo S, Yamauchi Y, Hayakawa K.
    J Med Genet; 1981 Dec 01; 18(6):456-8. PubMed ID: 7334505
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  • 14. Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome.
    Sillence DO.
    J Med Genet; 1978 Jun 01; 15(3):208-11. PubMed ID: 671485
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  • 16. [A new heart defect-brachydactyly syndrome].
    Göblyös P, Czeizel E.
    Orv Hetil; 1989 Oct 01; 130(40):2151-3. PubMed ID: 2616157
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  • 19. Distal symphalangism: a report of two families.
    Poush JR.
    J Hered; 1991 Oct 01; 82(3):233-8. PubMed ID: 2061594
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