Se la conosci la riconosci
La sindrome di Rubinstein-Taybi
Paola Cianci1, Laura Bettini2, Angelo Selicorni3
1Clinica Pediatrica, Ospedale “F. Del Ponte”, Università dell’Insubria Varese-Como, Varese
2Clinica Pediatrica, Fondazione MBBM, Ospedale “San Gerardo”, Università Milano Bicocca, Monza
3UOC di Pediatria, ASST Lariana PO San Fermo della Battaglia, Como
Ottobre 2017 - pagg. 523 -525
Classificazione MeSH
Contenuto riservato
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Bibliografia
• Bartsch O, Kress W, Kempf O, et al. Inheritance and variable expression
in Rubinstein-Taybi syndrome. Am J Med Genet A
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• Beets L, Rodríguez-Fonseca C, Hennekam RC. Growth charts for individuals
with Rubinstein-Taybi syndrome. Am J Med Genet A 2014;
164A:2300-9.
• Giacobbe A, Ajmone PF, Milani D, et al. Electroclinical phenotype
in Rubinstein-Taybi syndrome. Brain Dev 2016;38(6):563-70.
• Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet
2006;14:981-5.
• Marzuillo Grandone A, Coppola R, Cozzolino D, et al. Novel
cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-
Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary
hypoplasia. BMC Med Genet 2013;14:28.
• Negri G, Milani D, Colapietro P, et al. Clinical and molecular characterization
of Rubinstein-Taybi syndrome patients carrying distinct
novel mutations of the EP300 gene. Clin Genet 2015;87:148-54.
• Parsley L, Bellus G, Handler M, et al. Identical twin sisters with Rubinstein-
Taybi syndrome associated with Chiari malformations and
syrinx. Am J Med Genet A 2011;155:2766-70.
• Roelfsema JH, White SJ, Ariyurek Y, et al. Genetic heterogeneity in
Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes
cause disease. Am J Hum Genet 2005;76:572-80.
• Roelfsema JH, Peters DJM. Rubinstein-Taybi syndrome: clinical and
molecular overview. Expert Rev Mol Med 2007;9:1-16.
• Stevens CA. Rubinstein Taybi syndrome. GeneReviews: http://
www.ncbi. nlm.nih.gov/books/NBK1526/
Corrispondenza: angelo.selicorni61@gmail.com
