Heterogeneity of NSD1 alterations in 116
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Pascale Saugier-Veber; CΓ©line Bonnet; Alexandra Afenjar; ValΓ©rie Drouin-Garraud;
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Article
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2007
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John Wiley and Sons
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English
β 354 KB
Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, learning difficulties, and macrocephaly with frequent pre- and postnatal overgrowth with advanced bone age. Here, we report on our experience in the molecular diagnostic of Sotos syndrome on 116 patients. Using di