Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

30 mag , 2014 News dal Mondo

Am J Med Genet A. 2014 May 12.

Authors

Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R.

Abstract

NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype.  …continua a leggere!

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