Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

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 o...

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Veröffentlicht in:	American journal of medical genetics. Part A 2005-04, Vol.134A (3), p.247-253
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Child Child, Preschool Chromatography, High Pressure Liquid - methods Chromosome Deletion Chromosomes, Human, Pair 5 - genetics DNA Mutational Analysis Female Growth Disorders - congenital Growth Disorders - genetics Histone Methyltransferases Histone-Lysine N-Methyltransferase Humans In Situ Hybridization, Fluorescence Intracellular Signaling Peptides and Proteins - genetics Intracellular Signaling Peptides and Proteins - metabolism Male Mutation NSD1 Nuclear Proteins - genetics Nuclear Proteins - metabolism overgrowth Polymorphism, Genetic Sotos syndrome Syndrome
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