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Volumn 70, Issue 3, 1997, Pages 324-327

Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: Cytogenetic and molecular investigation

Author keywords

Craniosynostosis; Deletion of chromosome 2q; Ocular coloboma; Syndactyly

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME SATELLITE ASSOCIATION; COLOBOMA; CRANIOFACIAL SYNOSTOSIS; CYTOGENETICS; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; LIMB MALFORMATION; MALE; MOLECULAR BIOLOGY; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0031004451     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970613)70:3<324::AID-AJMG20>3.0.CO;2-M     Document Type: Article
Times cited : (37)

References (9)
  • 4
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and banding patterns in synpolydactyly caused by mutations in HOXD13
    • Muragaki Y, Mundlos S, Upton J, Olsen BR (1996): Altered growth and banding patterns in synpolydactyly caused by mutations in HOXD13. Science 272:548-551.
    • (1996) Science , vol.272 , pp. 548-551
    • Muragaki, Y.1    Mundlos, S.2    Upton, J.3    Olsen, B.R.4
  • 5
    • 0024391670 scopus 로고
    • A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2
    • Ramer JC, Ladda RL, Frankel CA, Beckford A (1989): A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2. Am J Med Genet 32:359-363.
    • (1989) Am J Med Genet , vol.32 , pp. 359-363
    • Ramer, J.C.1    Ladda, R.L.2    Frankel, C.A.3    Beckford, A.4
  • 6
    • 0025110206 scopus 로고
    • Five children with del (2)(q31q311) and one individual with dup (2)(q31q311) from a single family: Review of brain, cardiac, and limb malformations
    • Ramer JC, Mowrey PN, Robins DB, Ligato S, Towfighi J, Ladda RL (1990): Five children with del (2)(q31q311) and one individual with dup (2)(q31q311) from a single family: Review of brain, cardiac, and limb malformations. Am J Med Genet 37:392-400.
    • (1990) Am J Med Genet , vol.37 , pp. 392-400
    • Ramer, J.C.1    Mowrey, P.N.2    Robins, D.B.3    Ligato, S.4    Towfighi, J.5    Ladda, R.L.6
  • 7
    • 0028066738 scopus 로고
    • Deletions of 2q: Is there a 2q-syndrome?
    • Sanchez JM, Goldschmidt EL (1994): Deletions of 2q: Is there a 2q-syndrome? Am J Med Genet 49:448-449.
    • (1994) Am J Med Genet , vol.49 , pp. 448-449
    • Sanchez, J.M.1    Goldschmidt, E.L.2
  • 8
    • 0025727923 scopus 로고
    • Interstitial deletion del(2)(q24q31) with a phenotype similar to del(2)(q31q33)
    • Wamsler C, Muller B, Freyberger G, Schmid M (1991): Interstitial deletion del(2)(q24q31) with a phenotype similar to del(2)(q31q33). Am J Med Genet 39:204-206.
    • (1991) Am J Med Genet , vol.39 , pp. 204-206
    • Wamsler, C.1    Muller, B.2    Freyberger, G.3    Schmid, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.