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Volumn 48, Issue 4, 2007, Pages 405-407

A de novo interstitial 6q deletion in a boy with a split hand malformation

Author keywords

Chromosome 6q; Interstitial deletion 6q; Split hand

Indexed keywords


EID: 36849091283     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03195240     Document Type: Article
Times cited : (11)

References (11)
  • 1
    • 0000915823 scopus 로고
    • Interstitial deletion of 6q associated with ectrodactyly
    • Braverman N, Kline A, Pyeritz RE, 1993. Interstitial deletion of 6q associated with ectrodactyly. Am J Hum Genet Suppl 53: 410.
    • (1993) Am J Hum Genet , Issue.SUPPL. 53 , pp. 410
    • Braverman, N.1    Kline, A.2    Pyeritz, R.E.3
  • 3
    • 0037387599 scopus 로고    scopus 로고
    • Pathogenesis of split-hand/split-foot malformation
    • Duijf PH, van Bokhoven H, Brunner HG, 2003. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 12 Spec No 1: R51-60.
    • (2003) Hum Mol Genet , vol.12 , Issue.SPEC 1
    • Duijf, P.H.1    van Bokhoven, H.2    Brunner, H.G.3
  • 5
    • 0028859085 scopus 로고
    • Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21
    • Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffre L, 1995. Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21. Am J Med Genet 30: 315-318.
    • (1995) Am J Med Genet , vol.30 , pp. 315-318
    • Gurrieri, F.1    Cammarata, M.2    Avarello, R.M.3    Genuardi, M.4    Pomponi, M.G.5    Neri, G.6    Giuffre, L.7
  • 7
    • 33847255395 scopus 로고    scopus 로고
    • Interstitial deletions of chromosome 6q: Genotype-phenotype correlation utilizing array CGH
    • Klein OD, Cotter PD, Moore MW, Zanko A, Gilats M, Epstein CJ, et al. 2007. Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. Clin Genet 71: 260-266.
    • (2007) Clin Genet , vol.71 , pp. 260-266
    • Klein, O.D.1    Cotter, P.D.2    Moore, M.W.3    Zanko, A.4    Gilats, M.5    Epstein, C.J.6
  • 8
    • 0029084891 scopus 로고
    • Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: Report of two new patients and review of the literature
    • Pandya A, Braverman N, Pyeritz RE, Ying KL, Kline AD, Falk RE, 1995. Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature. Am J Med Genet 59: 38-43.
    • (1995) Am J Med Genet , vol.59 , pp. 38-43
    • Pandya, A.1    Braverman, N.2    Pyeritz, R.E.3    Ying, K.L.4    Kline, A.D.5    Falk, R.E.6
  • 10
    • 0036909229 scopus 로고    scopus 로고
    • Sortingnexin3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype
    • Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE, 2002. Sortingnexin3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. J Med Genet 39: 893-899.
    • (2002) J Med Genet , vol.39 , pp. 893-899
    • Vervoort, V.S.1    Viljoen, D.2    Smart, R.3    Suthers, G.4    DuPont, B.R.5    Abbott, A.6    Schwartz, C.E.7
  • 11
    • 0027182938 scopus 로고
    • Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation
    • Viljoen DL, Smart R, 1993. Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation. Clin Dysmorphol 2: 274-277.
    • (1993) Clin Dysmorphol , vol.2 , pp. 274-277
    • Viljoen, D.L.1    Smart, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.