Article
Genome-wide SNP array analysis in patients with features of sotos syndrome.
Hormone research in paediatrics - 1 Jan 2010
Visser Remco, Gijsbers Antoinet, Ruivenkamp Claudia, Karperien Marcel, Reeser H Maarten, Breuning Martijn H, Kant Sarina G, Wit Jan M
Abstract excerpt
BACKGROUND: Sotos syndrome is characterized by overgrowth, facial dysmorphism and learning impairment. Haploinsufficiency of NSD1 accounts for approximately 60-90% of the patients. Consequently, a considerable number of patients with features of Sotos syndrome remain without a molecular diagnosis. To date, target-gene approaches in these patients have not been successful. METHODS: Twenty-six Sotos syndrome-like...
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