Stocco dos Santos X-linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3-Xq21.3

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dc.contributor.author Santos, RCS dos
dc.contributor.author Castro, NHC
dc.contributor.author Holmes, A. L.
dc.contributor.author Becak, W.
dc.contributor.author Tackels-Horne, D.
dc.contributor.author Lindsey, C. J.
dc.contributor.author Lubs, H. A.
dc.contributor.author Stevenson, R. E.
dc.contributor.author Schwartz, C. E.
dc.date.accessioned 2016-01-24T12:33:48Z
dc.date.available 2016-01-24T12:33:48Z
dc.date.issued 2003-04-30
dc.identifier http://dx.doi.org/10.1002/ajmg.a.20021
dc.identifier.citation American Journal of Medical Genetics Part A. Hoboken: Wiley-Blackwell, v. 118A, n. 3, p. 255-259, 2003.
dc.identifier.issn 1552-4825
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/27213
dc.description.abstract Mental retardation (MR) affects an estimated 2-3% of the population. A considerable fraction of mental retardation is due to X-linked genes. of these genes, about 136 are responsible for syndromic X-linked MR (XLMR). One such XLMR syndrome, Stocco dos Santos, was first described in 1991. This family was re-visited, which allowed further delineation of the clinical phenotype. Additionally, linkage analysis was conducted, which resulted in the localization of this XLMR syndrome to the pericentric region, Xp11.3 to Xq21.1, with a maximum LOD score of 3.14 at loci AR and DXS983. (C) 2003 Wiley-Liss, Inc. en
dc.format.extent 255-259
dc.language.iso eng
dc.publisher Wiley-Blackwell
dc.relation.ispartof American Journal of Medical Genetics Part A
dc.rights Acesso restrito
dc.subject XLMR en
dc.subject Xp11.3-q21.3 en
dc.subject Stocco dos Santos en
dc.subject linkage en
dc.title Stocco dos Santos X-linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3-Xq21.3 en
dc.type Artigo
dc.rights.license http://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.contributor.institution Inst Butantan
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Univ Miami
dc.contributor.institution Univ Taubate
dc.contributor.institution Greenwood Genet Ctr
dc.description.affiliation Inst Butantan, Genet Lab, São Paulo, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Dept Biofis, São Paulo, SP, Brazil
dc.description.affiliation Univ Miami, Sch Med, Dept Pediat, Miami, FL USA
dc.description.affiliation Univ Taubate, Dept Biol Mol, Taubate, SP, Brazil
dc.description.affiliation Greenwood Genet Ctr, JC Self Res Inst, Ctr Mol Studies, Greenwood, SC 29646 USA
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Dept Biofis, São Paulo, SP, Brazil
dc.identifier.doi 10.1002/ajmg.a.20021
dc.description.source Web of Science
dc.identifier.wos WOS:000182401500009



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