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Volumn 146, Issue 24, 2008, Pages 3230-3233

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME 14; CHROMOSOME 2; CHROMOSOME 6; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; LETTER; MALE; PRIORITY JOURNAL;

EID: 57149101164     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32582     Document Type: Letter
Times cited : (6)

References (14)
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  • 5
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    • An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2a that affects anterior eye chamber development
    • Davies AF, Mirza G, Flinter F, Ragoussis J. 1999a. An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2a that affects anterior eye chamber development. J Med Genet 36:708-710.
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    • Davies, A.F.1    Mirza, G.2    Flinter, F.3    Ragoussis, J.4
  • 7
    • 57149113850 scopus 로고    scopus 로고
    • Molecular and cytogenetic studies in Cornelia de Lange syndrome
    • Descipio C. 2007. Molecular and cytogenetic studies in Cornelia de Lange syndrome. Am J Med Genet Part A 143A:1302.
    • (2007) Am J Med Genet , vol.143 A , Issue.PART A , pp. 1302
    • Descipio, C.1
  • 8
    • 8644243905 scopus 로고    scopus 로고
    • Dysmorphology and the orbital region: A practical clinical approach
    • Dollfus HN, Verloes A. 2004. Dysmorphology and the orbital region: A practical clinical approach. Surv Ophthalmol 49:547-561.
    • (2004) Surv Ophthalmol , vol.49 , pp. 547-561
    • Dollfus, H.N.1    Verloes, A.2
  • 9
    • 33744912750 scopus 로고    scopus 로고
    • Frontal nasal prominence expression driven by Tcfap2a relies on a conserved binding site for STAT proteins
    • Donner AL, Williams T. 2006. Frontal nasal prominence expression driven by Tcfap2a relies on a conserved binding site for STAT proteins. Dev Dyn 235:1358-1370.
    • (2006) Dev Dyn , vol.235 , pp. 1358-1370
    • Donner, A.L.1    Williams, T.2
  • 11
    • 34547099856 scopus 로고    scopus 로고
    • Genetic analysis indicates that transcription factors AP-2 alpha and Pax6 cooperate in the normal patterning and morphogenesis of the lens
    • Makhani LF, Williams T, West-Mays JA. 2007. Genetic analysis indicates that transcription factors AP-2 alpha and Pax6 cooperate in the normal patterning and morphogenesis of the lens. Mol Vis 13:1215-1225.
    • (2007) Mol Vis , vol.13 , pp. 1215-1225
    • Makhani, L.F.1    Williams, T.2    West-Mays, J.A.3
  • 12
    • 0019121059 scopus 로고
    • Complex chromosome rearrangements - Report of a new case and literature review
    • Pai GS, Thomas GH, Mahoney W, Migeon BR. 1980. Complex chromosome rearrangements - Report of a new case and literature review. Clin Genet 18:436-444.
    • (1980) Clin Genet , vol.18 , pp. 436-444
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  • 13
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    • Focus on molecules: Pax-6, the eye master
    • Tsonis PA, Fuentes EJ. 2006. Focus on molecules: Pax-6, the eye master. Exp Eye Res 83:233-234.
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  • 14
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    • A Patient with an interstitial deletion of the short arm of chromosome 6
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    • (1988) Clin Genet , vol.33 , pp. 95-101
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.