Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

Autor: Novara, Francesca, Stanzial, Franco, Rossi, Elena, Benedicenti, Francesco, Inzana, Francesca, Di Gregorio, Eleonora, Brusco, Alfredo, Graakjaer, Jesper, Fagerberg, Christina, Belligni, ELGA FABIA, Elga Fabia, Cirillo, Margherita, Zuffardi, Orsetta, Ciccone, Roberto

Publikováno v: Novara, F, Stanzial, F, Rossi, E, Benedicenti, F, Inzana, F, Di Gregorio, E, Brusco, A, Graakjaer, J, Fagerberg, C R, Belligni, E, Silengo, M, Zuffardi, O & Ciccone, R 2014, ' Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion ', American Journal of Medical Genetics. Part A, vol. 164, no. 8, pp. 2084-2090 . https://doi.org/10.1002/ajmg.a.36591

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.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c95216b0bfd1454261879332f22ef21
https://doi.org/10.1002/ajmg.a.36591