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Volumn 36, Issue 5, 2008, Pages 525-528

Utility of fetal ultrasonography in the prenatal diagnosis of Smith-Lemli-Opitz syndrome;Apport de l'échographie fœtale dans le diagnostic prénatal du syndrome de Smith-Lemli-Opitz

Author keywords

Fetal ultrasonography; Prenatal diagnosis; Smith Lemli Opitz syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DIAGNOSTIC IMAGING; DIAGNOSTIC VALUE; FACE DYSMORPHIA; FETUS; FETUS ECHOGRAPHY; GENETIC DISORDER; GENITAL MALFORMATION; HUMAN; INTRAUTERINE GROWTH RETARDATION; POLYDACTYLY; PRENATAL DIAGNOSIS; RARE DISEASE; SMITH LEMLI OPITZ SYNDROME;

EID: 44049097663     PISSN: 12979589     EISSN: 17696682     Source Type: Journal    
DOI: 10.1016/j.gyobfe.2008.01.014     Document Type: Article
Times cited : (4)

References (8)
  • 1
    • 0028239008 scopus 로고
    • Diagnosis of Smith-Lemli-Opitz syndrome
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    • (1994) N Engl J Med , vol.330 , Issue.23 , pp. 1685-1686
    • McGaughran, J.1    Donnai, D.2    Clayton, P.3    Mills, K.4
  • 2
    • 0029119994 scopus 로고
    • Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid
    • L. Dallaire G. Mitchell R. Giguere F. Lefebvre S.B. Melancon M. Lambert Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid Prenat Diagn 15 9 1995 855 858
    • (1995) Prenat Diagn , vol.15 , Issue.9 , pp. 855-858
    • Dallaire, L.1    Mitchell, G.2    Giguere, R.3    Lefebvre, F.4    Melancon, S.B.5    Lambert, M.6
  • 3
    • 0029022844 scopus 로고
    • Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
    • R.I. Kelley Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts Clin Chim Acta 236 1 1995 45 58
    • (1995) Clin Chim Acta , vol.236 , Issue.1 , pp. 45-58
    • Kelley, R.I.1
  • 4
    • 0031043337 scopus 로고    scopus 로고
    • Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome
    • J.A. Canick D.N. Abuelo L.A. Bradley G.S. Tint Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome Prenat Diagn 17 2 1997 187 189
    • (1997) Prenat Diagn , vol.17 , Issue.2 , pp. 187-189
    • Canick, J.A.1    Abuelo, D.N.2    Bradley, L.A.3    Tint, G.S.4
  • 7
    • 0023121108 scopus 로고
    • Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome
    • D.B. Joseph D.T. Uehling E. Gilbert R. Laxova Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome J Urol 137 4 1987 719 721
    • (1987) J Urol , vol.137 , Issue.4 , pp. 719-721
    • Joseph, D.B.1    Uehling, D.T.2    Gilbert, E.3    Laxova, R.4
  • 8
    • 0023253263 scopus 로고
    • Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
    • C.J. Curry J.C. Carey J.S. Holland Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality Am J Med Genet 26 1 1987 45 57
    • (1987) Am J Med Genet , vol.26 , Issue.1 , pp. 45-57
    • Curry, C.J.1    Carey, J.C.2    Holland, J.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.