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Volumn 47, Issue 6, 1995, Pages 324-327

A further report of Brachmann‐de Lange syndrome in two sibs with normal parents

Author keywords

autosomal dominant inheritance; autosomal recessive inheritance; Brachmann de Lange syndrome; Cornelia de Lange syndrome; genomic imprinting

Indexed keywords

ARM MALFORMATION; ARTICLE; CASE REPORT; DE LANGE SYNDROME; DISEASE SEVERITY; FAMILY STUDY; FEMALE; GENOME IMPRINTING; GROWTH RETARDATION; HUMAN; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL;

EID: 0029034661     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1995.tb03974.x     Document Type: Article
Times cited : (15)

References (33)
  • 4
    • 0000358890 scopus 로고
    • Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbogen sowie anderen Abnormalitäten
    • (1916) J B Kinderheilk Phys Erzieh , vol.84 , pp. 225-235
    • Brachmann, W.1
  • 10
    • 0027482013 scopus 로고
    • Familial Brachmann‐de Lange syndrome: Further evidence for autosomal dominant inheritance and review of the literature
    • (1993) Am J Med Genet , vol.47 , pp. 1064-1067
    • Feingold, M.1    Lin, AE.2
  • 12
    • 0026545975 scopus 로고
    • Syndrome of microcephaly, Brachmann‐de Lange‐like facial changes. Severe metatarsus adductus, and development delay: Mild Brachmann‐de Lange syndrome
    • (1992) Am J Med Genet , vol.42 , pp. 381-386
    • Halal, F.1    Silver, K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.