Article
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
American journal of medical genetics. Part A - 1 Aug 2014
Di Benedetto Daniela, Musumeci Sebastiano Antonino, Avola Emanuela, Alberti Antonino, Buono Serafino, Scuderi Carmela, Grillo Lucia, Galesi Ornella, Spalletta Angela, Giudice Mariangela Lo, Luciano Daniela, Vinci Mirella, Bianca Sebastiano, Romano Corrado, Fichera Marco
Abstract excerpt
Typical Xq25 duplications are large and associated with heterogeneous phenotypes. Recently, small duplications involving this genomic region and encompassing the GRIA3 and STAG2 genes have been reported. These Xq25 microduplications are associated with a recognizable syndrome including intellectual disability and distinctive facial appearance. We report on Xq25 microduplications in two unrelated families...
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