Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

I Coupry, C Roudaut, M Stef, MA Delrue… - Journal of Medical …, 2002 - jmg.bmj.com
METHODS Sixty-three patients affected with RTS were selected from France, Belgium, and
Switzerland. The cohort consisted of 36 female and 27 male patients. There were 58 white …

Submicroscopic deletion of chromosome 16p13. 3 in patients with Rubinstein‐Taybi syndrome

L Taine, C Goizet, ZQ Wen, F Petrij… - American journal of …, 1998 - Wiley Online Library
Abstract The Rubinstein‐Taybi syndrome (RTS) is a well‐defined entity characterized by
growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus …

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

F Petrij, HG Dauwerse, RI Blough, RH Giles… - Journal of medical …, 2000 - jmg.bmj.com
Rubinstein-Taybi syndrome (RTS) is a malformation syndrome characterised by facial
abnormalities, broad thumbs, broad big toes, and mental retardation. In a subset of RTS …

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

O Bartsch, A Wagner, GK Hinkel, P Krebs… - European Journal of …, 1999 - nature.com
Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by
mental retardation, a typical facies, broad thumbs and short stature. Previous reports …

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 …

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

A Bentivegna, D Milani, C Gervasini, P Castronovo… - BMC medical …, 2006 - Springer
Abstract Background Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital
disorder characterized by mental and growth retardation, broad and duplicated distal …

Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome

PW Chiang, NC Lee, N Chien, WL Hwu… - American Journal of …, 2009 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is a rare autosomal dominant genetic disease and is
characterized by mental retardation, distinctive facial features, broad and often angulated …

Analysis of CBP (CREBBP) gene deletions in Rubinstein‐Taybi syndrome patients using real‐time quantitative PCR

I Coupry, L Monnet, AAE Moneim Attia, L Taine… - Human …, 2004 - Wiley Online Library
Rubinstein‐Taybi syndrome (RTS) is a well‐defined syndrome characterized by facial
abnormalities, broad thumbs, broad big toes, and growth and mental retardation as the main …

Rubinstein‐Taybi syndrome caused by a de novo reciprocal translocation t (2; 16)(q36. 3; p13. 3)

F Petrij, JC Dorsman, HG Dauwerse… - American journal of …, 2000 - Wiley Online Library
Rubinstein‐Taybi syndrome (RTS) is a multiple congenital anomalies and mental
retardation syndrome characterized by facial abnormalities, broad thumbs, and broad big …

Rubinstein–Taybi syndrome in diverse populations

C Tekendo‐Ngongang, B Owosela… - American Journal of …, 2020 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss‐of‐
function variants in CREBBP or EP300. Affected individuals present with distinctive …