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American Journal of Medical Genetics
Volumn 82, Issue 4, 1999, Pages 301-304
Deletion of 1q in a patient with acrofacial dysostosis
Author keywords

Acrofacial dysostosis; Chromosome 1q; Critical aortic stenosis
Indexed keywords

AORTA STENOSIS; ARTICLE; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME DELETION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; NAGER ACROFACIAL DYSOSTOSIS; NEWBORN; PRIORITY JOURNAL;
EID: 0033590726     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990212)82:4<301::AID-AJMG5>3.0.CO;2-J     Document Type: Article
Times cited : (23)
References (7)
  • 1
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  • 2
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    • 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. 1993. Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. Am J Med Genet 47:660-678.
    • (1993) Am J Med Genet , vol.47 , pp. 660-678
    • Opitz, J.M.1    Mollica, F.2    Sorge, G.3    Milana, G.4    Cimino, G.5    Caltabiano, M.6
  • 3
    • 0344329663 scopus 로고
    • Nager syndrome: Clinical study in 11 patients
    • Program and Abstracts Samos, Greece. May 27-June 1, 1993
    • Pereira SCS. 1993. Nager syndrome: Clinical study in 11 patients. Program and Abstracts. VII International Clinical Genetics Seminar, Samos, Greece. May 27-June 1, 1993.
    • (1993) VII International Clinical Genetics Seminar
    • Pereira, S.C.S.1
  • 4
    • 0028942927 scopus 로고
    • Acrofacial dysostosis of unknown type: Nosology of the dysostosis dysostoses
    • Preis S, Raymaekers-Buntinx I, Majewski F. 1995. Acrofacial dysostosis of unknown type: nosology of the dysostosis dysostoses. Am J Med Genet 56:155-160.
    • (1995) Am J Med Genet , vol.56 , pp. 155-160
    • Preis, S.1    Raymaekers-Buntinx, I.2    Majewski, F.3
  • 5
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    • The Nager acrofacial dysostosis syndrome with tetralogy of Fallot
    • Thompson E, Cadbury R, Baraitser M. 1985. The Nager acrofacial dysostosis syndrome with tetralogy of Fallot. J Med Genet 22:408-410.
    • (1985) J Med Genet , vol.22 , pp. 408-410
    • Thompson, E.1    Cadbury, R.2    Baraitser, M.3
  • 6
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    • Nager syndrome with partial duplication of the long arm of chromosome 2
    • Wagner SF, Cole J. 1979. Nager syndrome with partial duplication of the long arm of chromosome 2 (abstract 389). Am J Hum Genet 31:116A.
    • (1979) Am J Hum Genet , vol.31
    • Wagner, S.F.1    Cole, J.2
  • 7
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    • Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies
    • Zori RT, Gray BA, Bent-Williams A, Driscoll DJ, Williams CA, Zackowski JL. 1993. Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. Am J Med Genet 46:379-383.
    • (1993) Am J Med Genet , vol.46 , pp. 379-383
    • Zori, R.T.1    Gray, B.A.2    Bent-Williams, A.3    Driscoll, D.J.4    Williams, C.A.5    Zackowski, J.L.6

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.