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Volumn 6, Issue 3, 1997, Pages 263-266

Smith-Lemli-Opitz syndrome: Further delineation of the phenotype

Author keywords

cholesterol; SLOS; Smith Lemli Opitz

Indexed keywords

ARTICLE; CASE REPORT; CLEFT LIP; CLINICAL FEATURE; DISEASE CLASSIFICATION; HAND MALFORMATION; HUMAN; MALE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

EID: 0030875002     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199707000-00011     Document Type: Article
Times cited : (9)

References (13)
  • 1
    • 0023635630 scopus 로고
    • Female external genitalia and Mullerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome
    • Bialer M, Penchaszadeh V Kahn E, Libes R, Krigsman G, Lesser M (1987): Female external genitalia and Mullerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome. Am J Med Genet 28: 723-731.
    • (1987) Am J Med Genet , vol.28 , pp. 723-731
    • Bialer, M.1    Penchaszadeh, V.2    Kahn, E.3    Libes, R.4    Krigsman, G.5    Lesser, M.6
  • 3
    • 0023231634 scopus 로고
    • The Gardner-Silengo-Wachtel or Genito-Palato-Cardiac syndrome: Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect
    • Greenberg F, Gresik M, Carpenter R, Law S, Hoffman L, Ledbetter D (1987): The Gardner-Silengo-Wachtel or Genito-Palato-Cardiac syndrome: Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect. Am J Med Genet 26: 59-64.
    • (1987) Am J Med Genet , vol.26 , pp. 59-64
    • Greenberg, F.1    Gresik, M.2    Carpenter, R.3    Law, S.4    Hoffman, L.5    Ledbetter, D.6
  • 4
    • 0027270349 scopus 로고
    • Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
    • Irons M, Elias E, Salen G, Tint G, Batta A (1993): Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341: 1414.
    • (1993) Lancet , vol.341 , pp. 1414
    • Irons, M.1    Elias, E.2    Salen, G.3    Tint, G.4    Batta, A.5
  • 5
    • 8044250352 scopus 로고
    • The clinical and biochemical spectrum of 7-dehydrocholesterolemia: Smith-Lemli-Opitz syndrome and its variants
    • Kelley R, Moser A, Natowicz M (1994): The clinical and biochemical spectrum of 7-dehydrocholesterolemia: Smith-Lemli-Opitz syndrome and its variants. Am J Med Genet 50: 335.
    • (1994) Am J Med Genet , vol.50 , pp. 335
    • Kelley, R.1    Moser, A.2    Natowicz, M.3
  • 6
    • 0023449740 scopus 로고
    • Letter to the Editor: Smith-Lemli-Opitz syndrome
    • Meinecke P, Blunck W, Rodewald A (1987): Letter to the Editor: Smith-Lemli-Opitz syndrome. Am J Med Genet 28: 735-739.
    • (1987) Am J Med Genet , vol.28 , pp. 735-739
    • Meinecke, P.1    Blunck, W.2    Rodewald, A.3
  • 7
    • 0028314608 scopus 로고
    • RSH/SLO ("Smith-Lemli-Opitz") syndrome. Historical, genetic and developmental considerations
    • Opitz J (1994): RSH/SLO ("Smith-Lemli-Opitz") syndrome. Historical, genetic and developmental considerations. Am J Med Genet 50: 344-346.
    • (1994) Am J Med Genet , vol.50 , pp. 344-346
    • Opitz, J.1
  • 8
    • 0023211017 scopus 로고
    • Editorial Note: Lincoln vs. Douglas again; Comments on the papers by Curry et al., Greenburg et al., and Belmont et al
    • Opitz J, Lowry R (1987): Editorial Note: Lincoln vs. Douglas again; Comments on the papers by Curry et al., Greenburg et al., and Belmont et al. Am J Med Genet 26: 69-71.
    • (1987) Am J Med Genet , vol.26 , pp. 69-71
    • Opitz, J.1    Lowry, R.2
  • 10
    • 0028965693 scopus 로고
    • Unusual case of Smith-Lemli-Opitz syndrome 'Type II'
    • Seller M, Russell J, Tint G (1995): Unusual case of Smith-Lemli-Opitz syndrome 'Type II'. Am J Med Genet: 56: 265-268.
    • (1995) Am J Med Genet , vol.56 , pp. 265-268
    • Seller, M.1    Russell, J.2    Tint, G.3
  • 11
    • 0000139419 scopus 로고
    • A newly recognized syndrome of multiple congenital anomalies
    • Smith D, Lemli L, Opitz J (1964): A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64: 210-217.
    • (1964) J Pediatr , vol.64 , pp. 210-217
    • Smith, D.1    Lemli, L.2    Opitz, J.3
  • 12
    • 8544251034 scopus 로고
    • The cholesterol biosynthesis defect in the Smith-Lemli-Opitz syndrome
    • Tint G (1994): The cholesterol biosynthesis defect in the Smith-Lemli-Opitz syndrome. Am J Med Genet 50: 336-337.
    • (1994) Am J Med Genet , vol.50 , pp. 336-337
    • Tint, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.