A syndrome of short stature, microcephal
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Franco, Luis M; de Ravel, Thomy; Graham, Brett H; Frenkel, Stephanie M; Van Drie
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Article
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2009
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Nature Publishing Group
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English
β 357 KB
Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and susceptibility to disease. Sotos syndrome is characterized by overgrowth, macrocephaly, developmental delay and advanced osseous maturation. Haploinsufficiency of NSD1, caused by inactivating point muta