Article
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
American journal of medical genetics. Part A - 30 Apr 2005
Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero G B, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco E Lucci, Neri G, Pierluigi M, Bricarelli F Dagna, Grasso M, Faravelli Francesca
Abstract excerpt
Sotos syndrome is characterized by pre- and post-natal overgrowth, typical craniofacial features, advanced bone age, and developmental delay. Some degree of phenotypic overlap exists with other overgrowth syndromes, in particular with Weaver syndrome. Sotos syndrome is caused by haploinsufficiency of the NSD1 (nuclear receptor SET domain containing gene 1) gene. Microdeletions involving the gene are the major...
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