Article
Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features.
American journal of medical genetics. Part A - 1 Mar 2016
Carrera Ignacio Arroyo, de Zaldívar María Solo, Martín Rebeca, Begemann Matthias, Soellner Lukas, Eggermann Thomas
Abstract excerpt
The association of maternal uniparental disomy of human chromosome 7 (upd(7) mat) and the growth retardation disorder Silver-Russell syndrome (SRS) is well established, but the causative gene or region is currently unknown. However, several observations indicate that molecular alterations of the genomically imprinted MEST region in 7q32.2 are associated with growth retardation and a phenotype reminiscent to SRS....
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