Produção Nacional
Revisado por pares
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients
2005; Wiley; Volume: 136A; Issue: 3 Linguagem: Inglês
10.1002/ajmg.a.30810
ISSN1552-4833
AutoresFernanda B. Scalco, Lina S. Correa-Cerro, Christopher A. Wassif, Forbes D. Porter, Danilo Moretti‐Ferreira,
Tópico(s)Nuclear Receptors and Signaling
ResumoAmerican Journal of Medical Genetics Part AVolume 136A, Issue 3 p. 278-281 Research Letter DHCR7 mutations in Brazilian Smith–Lemli–Opitz syndrome patients† F.B. Scalco, F.B. Scalco Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MarylandSearch for more papers by this authorL.S. Correa-Cerro, L.S. Correa-Cerro Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MarylandSearch for more papers by this authorC.A. Wassif, C.A. Wassif Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MarylandSearch for more papers by this authorF.D. Porter, Corresponding Author F.D. Porter [email protected] Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MarylandHeritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bld. 10, RM 9D42, 10 Center Dr., Bethesda, MD 20892.Search for more papers by this authorD. Moretti-Ferreira, D. Moretti-Ferreira Genetic Counseling Service, Institute of Biosciences, São Paulo State University, Botucatu, São Paulo, BrazilSearch for more papers by this author F.B. Scalco, F.B. Scalco Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MarylandSearch for more papers by this authorL.S. Correa-Cerro, L.S. Correa-Cerro Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MarylandSearch for more papers by this authorC.A. Wassif, C.A. Wassif Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MarylandSearch for more papers by this authorF.D. Porter, Corresponding Author F.D. Porter [email protected] Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MarylandHeritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bld. 10, RM 9D42, 10 Center Dr., Bethesda, MD 20892.Search for more papers by this authorD. Moretti-Ferreira, D. Moretti-Ferreira Genetic Counseling Service, Institute of Biosciences, São Paulo State University, Botucatu, São Paulo, BrazilSearch for more papers by this author First published: 10 June 2005 https://doi.org/10.1002/ajmg.a.30810Citations: 7 † This article is a US Government work and, as such, is in the public domain in the United States of America. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES Battaile KP, Battaile BC, Merkens LS, Maslen CL, Steiner RD. 2001. 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Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith–Lemli–Opitz syndrome. Am J Hum Genet 63: 55– 62. Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. 1998. Smith–Lemli–Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet 63: 329– 338. Waye JS, Nakamura LM, Eng B, Hunnisett L, Chitayat D, Costa T, Nowaczyk MJ. 2002. Smith–Lemli–Opitz syndrome: Carrier frequency and spectrum of DHCR7 mutations in Canada. J Med Genet 39: E31. Witsch-Baumgartner M, Ciara E, Loffler J, Menzel HJ, Seedorf U, Burn J, Gillessen-Kaesbach G, Hoffmann GF, Fitzky BU, Mundy H, Clayton P, Kelley RI, Krajewska-Walasek M, Utermann G. 2001a. Frequency gradients of DHCR7 mutations in patients with Smith–Lemli–Opitz syndrome in Europe: Evidence for different origins of common mutations. Eur J Hum Genet 9: 45– 50. Witsch-Baumgartner M, Loffler J, Utermann G. 2001b. Mutations in the human DHCR7 gene. Hum Mutat 17: 172– 182. Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS. 2000. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith–Lemli–Opitz (RSH) syndrome. Hum Mol Genet 9: 1385– 1391. Citing Literature Volume136A, Issue330 July 2005Pages 278-281 ReferencesRelatedInformation
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