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Journal Abstract Search

138 related items for PubMed ID: 2333876

  • 1. Severe postaxial acrofacial dysostosis: an anatomic and angiographic study.
    Rodríguez JI, Palacios J.
    Am J Med Genet; 1990 Apr; 35(4):490-2. PubMed ID: 2333876
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  • 3. Rodriguez lethal acrofacial dysostosis syndrome with pulmonary hypoplasia.
    Miyawaki M, Higuchi R, Yoshikawa N.
    Pediatr Int; 2009 Aug; 51(4):593-5. PubMed ID: 19674374
    [No Abstract] [Full Text] [Related]

  • 4. Familial postaxial acrofacial dysostosis syndrome.
    Giannotti A, Digilio MC, Virgili Q, Obregon MG, Guadagni AM, Ventura T, Dallapiccola B.
    J Med Genet; 1992 Oct; 29(10):752. PubMed ID: 1433242
    [No Abstract] [Full Text] [Related]

  • 5. Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
    Sermer D, Quercia N, Chong K, Chitayat D.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3286-9. PubMed ID: 18000904
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  • 7. Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses.
    Preis S, Raymaekers-Buntinx I, Majewski F.
    Am J Med Genet; 1995 Mar 27; 56(2):155-60. PubMed ID: 7625437
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  • 8. Postaxial acrofacial dysostosis: report of a Brazilian patient.
    Richieri-Costa A, Guion-Almeida ML.
    Am J Med Genet; 1989 Aug 27; 33(4):447-9. PubMed ID: 2596501
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  • 10. Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of Genée and Wiedemann.
    Opitz JM.
    Am J Med Genet; 1987 Aug 27; 27(4):959-63. PubMed ID: 3425605
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  • 11. Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review.
    Verrotti C, Benassi G, Piantelli G, Magnani C, Giordano G, Gramellini D.
    J Matern Fetal Neonatal Med; 2007 Jun 27; 20(6):487-90. PubMed ID: 17674260
    [Abstract] [Full Text] [Related]

  • 12. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
    Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Gener Querol B, Branney P, McKay S, Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR.
    Hum Mol Genet; 2012 Sep 15; 21(18):3969-83. PubMed ID: 22692683
    [Abstract] [Full Text] [Related]

  • 13. Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case.
    Pfeiffer RA, Stoess H.
    Am J Med Genet; 1983 Jun 15; 15(2):255-60. PubMed ID: 6881198
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  • 14. Miller's syndrome. Anaesthetic management of postaxial acrofacial dysostosis.
    Richards M.
    Anaesthesia; 1987 Aug 15; 42(8):871-4. PubMed ID: 3661933
    [Abstract] [Full Text] [Related]

  • 15. Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?
    Zhang Y, Dai Y, Liu Y, Ren J.
    Clin Genet; 2010 Dec 15; 78(6):570-4. PubMed ID: 20412112
    [Abstract] [Full Text] [Related]

  • 16. Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.
    Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E.
    Am J Med Genet A; 2013 Sep 15; 161A(9):2311-5. PubMed ID: 23913624
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  • 18. Mandibulofacial dysostosis with limb malformations (Nager's acrofcial dysostosis).
    Bowen P, Harley F.
    Birth Defects Orig Artic Ser; 1974 Sep 15; 10(5):109-15. PubMed ID: 4469973
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  • 19. Acrofacial dysostosis with postaxial limb deficiency.
    Fryns JP, Van den Berghe H.
    Am J Med Genet; 1988 Jan 15; 29(1):205-8. PubMed ID: 3344768
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  • 20. Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.
    Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M.
    Am J Med Genet; 1993 Oct 01; 47(5):660-78. PubMed ID: 8266994
    [Abstract] [Full Text] [Related]

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