Article
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
European journal of human genetics : EJHG - 1 Nov 2003
Türkmen Seval, Gillessen-Kaesbach Gabriele, Meinecke Peter, Albrecht Beate, Neumann Luitgard M, Hesse Volker, Palanduz Sükrü, Balg Stefanie, Majewski Frank, Fuchs Sigrun, Zschieschang Petra, Greiwe Monika, Mennicke Kirsten, Kreuz Friedmar R, Dehmel Harald J, Rodeck Burkhard, Kunze Jürgen, Tinschert Sigrid, Mundlos Stefan, Horn Denise
Abstract excerpt
Recently, deletions encompassing the nuclear receptor binding SET-Domain 1 (NSD1) gene have been described as the major cause of Japanese patients with the Sotos syndrome, whereas point mutations have been identified in the majority of European Sotos syndrome patients. In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed...
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