Article
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.
American journal of medical genetics. Part A - 30 Apr 2003
Stocco dos Santos Rita C, Castro Nelson H C, Lillia Holmes A, Beçak Willy, Tackels-Horne Darci, Lindsey Charles J, Lubs Herbert A, Stevenson Roger E, Schwartz Charles E
Abstract excerpt
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...
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