Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

Overgrowth disorders are a heterogeneous group of conditions characterised by increased growth parameters and variable other clinical features, such as intellectual disability and facial dysmorphism(1). To identify novel causes of human overgrowth we performed exome sequencing in 10 proband-parent t...

Descripción completa

Detalles Bibliográficos
Autores principales: Tatton-Brown, Katrina, Seal, Sheila, Ruark, Elise, Harmer, Jenny, Ramsay, Emma, del Vecchio Duarte, Silvana, Zachariou, Anna, Hanks, Sandra, O’Brien, Eleanor, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Gener, Blanca, Goudie, David, Homfray, Tessa, Kumar, Ajith, Pilz, Daniela T, Selicorni, Angelo, Temple, I Karen, Van Maldergem, Lionel, Yachelevich, Naomi, van Montfort, Robert, Rahman, Nazneen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981653/
https://www.ncbi.nlm.nih.gov/pubmed/24614070
http://dx.doi.org/10.1038/ng.2917

Ejemplares similares

Ejemplares similares