[HTML][HTML] Rubinstein-Taybi syndrome: a model of epigenetic disorder

J Van Gils, F Magdinier, P Fergelot, D Lacombe - Genes, 2021 - mdpi.com
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder
characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual …

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

P Fergelot, M Van Belzen, J Van Gils… - American Journal of …, 2016 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical
face and distal limbs abnormalities, intellectual disability, and a vast number of other …

Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the EP300 gene

G Negri, D Milani, P Colapietro, F Forzano… - Clinical …, 2015 - Wiley Online Library
Rubinstein‐Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder
characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features …

Rubinstein–Taybi syndrome: clinical and molecular overview

JH Roelfsema, DJM Peters - Expert reviews in molecular medicine, 2007 - cambridge.org
Rubinstein–Taybi syndrome is characterised by mental retardation, growth retardation and a
particular dysmorphology. The syndrome is rare, with a frequency of approximately one …

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

D Bartholdi, JH Roelfsema, F Papadia… - Journal of medical …, 2007 - jmg.bmj.com
Background: Rubinstein–Taybi syndrome (RSTS) is a congenital disorder characterised by
growth retardation, facial dysmorphisms, skeletal abnormalities and mental retardation …

From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical …

G Negri, P Magini, D Milani, P Colapietro… - Human …, 2016 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder
characterized by growth deficiency, skeletal abnormalities, dysmorphic features, and …

Ultra-rare syndromes: the example of Rubinstein–Taybi syndrome

S Spena, C Gervasini, D Milani - Journal of pediatric genetics, 2015 - thieme-connect.com
Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and
neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous …

[HTML][HTML] Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome

N Zimmermann, AMBF Acosta, J Kohlhase… - European journal of …, 2007 - nature.com
Abstract The Rubinstein–Taybi syndrome (RSTS, MIM 180849), a dominant Mendelian
disorder with typical face, short stature, skeletal abnormalities, and mental retardation, is …

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

D Rusconi, G Negri, P Colapietro, C Picinelli, D Milani… - Human Genetics, 2015 - Springer
Rubinstein–Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder
characterized by cognitive impairment and several multiple congenital anomalies. The …

[HTML][HTML] Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

M López, A García-Oguiza, J Armstrong… - BMC medical …, 2018 - Springer
Abstract Background Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant
neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused …