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Volumn 5, Issue 2, 1996, Pages 153-158

An unusual presentation of Smith-Magenis syndrome with iris dysgenesis

Author keywords

iris dysgenesis; Smith Magenis syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17; CHROMOSOME DELETION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; IRIS DISEASE; MALE; MALFORMATION SYNDROME; PRIORITY JOURNAL;

EID: 0029954907     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199604000-00007     Document Type: Article
Times cited : (12)

References (13)
  • 4
    • 0026518338 scopus 로고
    • Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly
    • Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH (1992): Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet 50, 182-189.
    • (1992) Am J Hum Genet , vol.50 , pp. 182-189
    • Ledbetter, S.A.1    Kuwano, A.2    Dobyns, W.B.3    Ledbetter, D.H.4
  • 6
    • 0027458370 scopus 로고
    • Confirmation of a particular but nonspecific metacarpophalangeal pattern profile in patients with the Smith-Magenis syndrome due to interstitial deletion of 17p
    • Meinecke P (1993): Confirmation of a particular but nonspecific metacarpophalangeal pattern profile in patients with the Smith-Magenis syndrome due to interstitial deletion of 17p. Am J Med Genet 45, 441-442.
    • (1993) Am J Med Genet , vol.45 , pp. 441-442
    • Meinecke, P.1
  • 7
    • 0025875443 scopus 로고
    • Smith-Magenis syndrome: A new contiguous gene syndrome. Report of three new cases
    • Moncla A, Livet MO, Auger M, Mattei JF, Mattei MG, Giraud F (1991): Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases. J Med Genet 28, 627-632.
    • (1991) J Med Genet , vol.28 , pp. 627-632
    • Moncla, A.1    Livet, M.O.2    Auger, M.3    Mattei, J.F.4    Mattei, M.G.5    Giraud, F.6
  • 8
    • 0021637766 scopus 로고
    • Interstitial deletion of the short arm of chromosome 17
    • Patil SR, Bartley JA (1984): Interstitial deletion of the short arm of chromosome 17. Hum Genet 67, 237-238.
    • (1984) Hum Genet , vol.67 , pp. 237-238
    • Patil, S.R.1    Bartley, J.A.2
  • 10
    • 0001403971 scopus 로고
    • Deletion of the 17 short arm in two patients with facial clefts and congenital heart disease
    • Smith ACM, McGavran L, Waldstein G, Robinson J (1982): Deletion of the 17 short arm in two patients with facial clefts and congenital heart disease. Am J Hum Genet 34, 146A.
    • (1982) Am J Hum Genet , vol.34
    • Smith, A.C.M.1    McGavran, L.2    Waldstein, G.3    Robinson, J.4
  • 12
    • 9344267041 scopus 로고
    • Monosomy of 17p11.2 in two unrelated infants with developmental delay
    • Stallard R, Dubin A, Coury D (1984): Monosomy of 17p11.2 in two unrelated infants with developmental delay. Am J Hum Genet 36, 114S.
    • (1984) Am J Hum Genet , vol.36
    • Stallard, R.1    Dubin, A.2    Coury, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.