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Volumn 35, Issue 7, 1998, Pages 558-565

Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype

Author keywords

7 Dehydrocholesterol; Cholesterol; Mental retardation; Smith Lemli Opitz syndrome

Indexed keywords

AGGRESSION; ARTICLE; FEMALE; HEART SEPTUM DEFECT; HUMAN; HYPOSPADIAS; INCIDENCE; MAJOR CLINICAL STUDY; MALE; PHOTOSENSITIVITY; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

EID: 0031812755     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.7.558     Document Type: Article
Times cited : (197)

References (12)
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  • 5
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    • Irons M, Elias ER, Salen G, Tint GS, Batta AK. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 1993;341:1414.
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  • 6
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    • Tint GS, Irons M, Elias ER, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 1994;330:107-13.
    • (1994) N Engl J Med , vol.330 , pp. 107-113
    • Tint, G.S.1    Irons, M.2    Elias, E.R.3
  • 7
    • 0029098207 scopus 로고
    • Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes
    • Honda A, Tint GS, Salen G, Batta AK, Chen TS, Shefer S. Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. J Lipid Res 1995;36:1595-601.
    • (1995) J Lipid Res , vol.36 , pp. 1595-1601
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  • 8
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    • Kelley IK, Roessler E, Hennekam CM, et al. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of sonic hedgehog? Am J Med Genet 1996;66:478-84.
    • (1996) Am J Med Genet , vol.66 , pp. 478-484
    • Kelley, I.K.1    Roessler, E.2    Hennekam, C.M.3
  • 9
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    • Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable disruption of an SLOS gene
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  • 10
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  • 11
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    • Acosta, P.B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.