Article
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
American journal of human genetics - 1 Apr 2004
Baujat Geneviève, Rio Marlène, Rossignol Sylvie, Sanlaville Damien, Lyonnet Stanislas, Le Merrer Martine, Munnich Arnold, Gicquel Christine, Cormier-Daire Valérie, Colleaux Laurence
Abstract excerpt
Sotos syndrome is an overgrowth syndrome characterized by pre- and postnatal overgrowth, macrocephaly, advanced bone age, variable degrees of mental retardation, and typical facial features. Defects of the NSD1 gene account for >or=60% of cases of Sotos syndrome, whereas the disease-causing mechanism of other cases remains unknown. Beckwith-Wiedemann syndrome (BWS) is a distinct overgrowth condition characterized...
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