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Volumn 20, Issue 2, 2014, Pages 203-205

Phenotypical characterization of 13q deletion syndrome: Report of two cases

Author keywords

13q deletion syndrome; Mental retardation; Multiple anomalies

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 13Q DELETION SYNDROME; CHROMOSOME DELETION; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; INTERSTITIAL CHROMOSOME DELETION; JACOBSEN SYNDROME; MALE; MENTAL DEFICIENCY; NEUROPATHY; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD;

EID: 84908506430     PISSN: 09716866     EISSN: 1998362X     Source Type: Journal    
DOI: 10.4103/0971-6866.142912     Document Type: Article
Times cited : (6)

References (6)
  • 1
    • 0027402372 scopus 로고
    • Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
    • Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 1993;45:52-9.
    • (1993) Am J Med Genet , vol.45 , pp. 52-59
    • Brown, S.1    Gersen, S.2    Anyane-yeboa, K.3    Warburton, D.4
  • 2
    • 0028982746 scopus 로고
    • The 13q-syndrome: The molecular definition of a critical deletion region in band 13q32
    • Brown S, Russo J, Chitayat D, Warburton D. The 13q-syndrome: The molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 1995;57:859-66.
    • (1995) Am J Hum Genet , vol.57 , pp. 859-866
    • Brown, S.1    Russo, J.2    Chitayat, D.3    Warburton, D.4
  • 3
  • 4
    • 0019190556 scopus 로고
    • Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14
    • Sparkes RS, Sparkes MC, Wilson MG, Towner JW, Benedict W, Murphree AL, et al. Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. Science 1980;208:1042-4.
    • (1980) Science , vol.208 , pp. 1042-1044
    • Sparkes, R.S.1    Sparkes, M.C.2    Wilson, M.G.3    Towner, J.W.4    Benedict, W.5    Murphree, A.L.6
  • 5
    • 0029634409 scopus 로고
    • Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13
    • Fryns JP. Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13. Am J Med Genet 1995;57:504.
    • (1995) Am J Med Genet , vol.57 , pp. 504
    • Fryns, J.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.