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Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

✍ Scribed by Novara, Francesca; Stanzial, Franco; Rossi, Elena; Benedicenti, Francesco; Inzana, Francesca; Di Gregorio, Eleonora; Brusco, Alfredo; Graakjaer, Jesper; Fagerberg, Christina; Belligni, Elga; Silengo, Margherita; Zuffardi, Orsetta; Ciccone, Roberto


Book ID
121816926
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
198 KB
Volume
164
Category
Article
ISSN
1552-4825

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A syndrome of short stature, microcephal
✍ Franco, Luis M; de Ravel, Thomy; Graham, Brett H; Frenkel, Stephanie M; Van Drie πŸ“‚ Article πŸ“… 2009 πŸ› Nature Publishing Group 🌐 English βš– 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