Article
Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
Hormone research - 1 Jan 2004
de Boer Lonneke, Kant Sarina G, Karperien Marcel, van Beers Lotte, Tjon Jennifer, Vink Geraldine R, van Tol Dewy, Dauwerse Hans, le Cessie Saskia, Beemer Frits A, van der Burgt Ineke, Hamel Ben C J, Hennekam Raoul C, Kuhnle Ursula, Mathijssen Inge B, Veenstra-Knol Hermine E, Stumpel Connie T Schrander, Breuning Martijn H, Wit Jan M
Abstract excerpt
BACKGROUND: Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration. METHODS: Mutation and fluorescence in situ hybridization analysis was performed on blood samples of 59 patients who were...
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