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Volumn 17, Issue 4, 2003, Pages 532-534

Ocular coloboma and radial aplasia: Syndrome or association

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; BONE RADIOGRAPHY; CASE REPORT; CHROMOSOME ANALYSIS; COLOBOMA; DISEASE ASSOCIATION; DNA PROBE; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPING; LETTER; MULTIPLE MALFORMATION SYNDROME; PHYSICAL EXAMINATION; RADIUS APLASIA;

EID: 0038621433     PISSN: 0950222X     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.eye.6700312     Document Type: Letter
Times cited : (3)

References (11)
  • 1
    • 0019379794 scopus 로고
    • Ocular coloboma
    • Pagon R. Ocular coloboma. Surv Ophthalmol 1981; 25: 223-236.
    • (1981) Surv. Ophthalmol. , vol.25 , pp. 223-236
    • Pagon, R.1
  • 4
    • 0015912824 scopus 로고
    • Defects and disabilities of thalidomide children
    • Smithells RW. Defects and disabilities of thalidomide children. BMJ 1973; 1: 269-272.
    • (1973) BMJ , vol.1 , pp. 269-272
    • Smithells, R.W.1
  • 5
    • 0031825654 scopus 로고    scopus 로고
    • Eye malformations associated with treatment with carbamazepine during pregnancy
    • Sutcliffe AG, Jones RB, Woodruff G. Eye malformations associated with treatment with carbamazepine during pregnancy. Ophthalm Genet 1998; 19: 59-62.
    • (1998) Ophthalm. Genet. , vol.19 , pp. 59-62
    • Sutcliffe, A.G.1    Jones, R.B.2    Woodruff, G.3
  • 6
    • 0029982506 scopus 로고    scopus 로고
    • Fetal alcohol syndrome - An ophthamological and socioeducational prospective study
    • Stromland K, Hellstrom A. Fetal alcohol syndrome - an ophthamological and socioeducational prospective study Pediatrics 1996; 97: 845-850.
    • (1996) Pediatrics , vol.97 , pp. 845-850
    • Stromland, K.1    Hellstrom, A.2
  • 7
    • 0034080897 scopus 로고    scopus 로고
    • Visual acuity in children with coloboma: Clinical features and a new phenotypic classification system
    • Hornby SJ, Adolph S, Gilbert CE et al. Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. Ophthalmology 2000; 107: 511-519.
    • (2000) Ophthalmology , vol.107 , pp. 511-519
    • Hornby, S.J.1    Adolph, S.2    Gilbert, C.E.3
  • 8
    • 0031004451 scopus 로고    scopus 로고
    • Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma and limb abnormalities
    • Nixon J, Oldridge M, Wilkie AOM, Smith K. Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma and limb abnormalities. Am J Med Genet 1997; 70: 324-327.
    • (1997) Am. J. Med. Genet. , vol.70 , pp. 324-327
    • Nixon, J.1    Oldridge, M.2    Wilkie, A.O.M.3    Smith, K.4
  • 9
    • 0028963512 scopus 로고
    • Deletion of chromosome 2q24-q31 cause characteristic digital anomalies. Case report and review
    • Boles RG, Pober BR, Gibson LH et al. Deletion of chromosome 2q24-q31 cause characteristic digital anomalies. Case report and review. Am J Med Genet 1995; 55: 155-160.
    • (1995) Am. J Med. Genet. , vol.55 , pp. 155-160
    • Boles, R.G.1    Pober, B.R.2    Gibson, L.H.3
  • 10
    • 0027370619 scopus 로고
    • Prevalance of 22q11 microdeletion in Di George and velocardiofacial syndromes: Implications of genetic counselling and prenatal diagnosis
    • Driscoll DA, Salvin J, Sellinger B et al. Prevalance of 22q11 microdeletion in Di George and velocardiofacial syndromes: implications of genetic counselling and prenatal diagnosis. J Med Genet 1993; 30: 813-817.
    • (1993) J. Med. Genet. , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3
  • 11
    • 0030726834 scopus 로고    scopus 로고
    • Radial aplasia and chromosome 22q11 deletion
    • Digilio MC, Giannotti A, Marino B et al. Radial aplasia and chromosome 22q11 deletion. J Med Genet 1997; 34: 942-944.
    • (1997) J. Med. Genet. , vol.34 , pp. 942-944
    • Digilio, M.C.1    Giannotti, A.2    Marino, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.