Rubinstein-Taybi syndrome (RSTS) is a rare malformation disorder caused by mutations in the CREBBP and EP300 genes accounting for up to 60% and 3% of the tested patients, respectively. About 10% of CREBBP mutations are deletions, often extending to flanking regions, with scattered breakpoints. By FISH and microsatellite analyses as first step of CREBBP mutation screening we identified in 60 Italian RSTS patients, six deletions, three of which present in a mosaic condition, a finding yet unreported. Using BAC clones and small-sized CREBBP- probes we could assess the extent of all deletions. Only two of the twelve breakpoints were found to encompass the same region, confirming the heterogeneity in size and boundaries of CREBBP deletions. Ho...
The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous di...
The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous di...
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and dis...
Rubinstein-Taybi syndrome (RSTS) is a rare malformation disorder caused by mutations in the closely ...
AbstractRubinstein–Taybi syndrome (RSTS) is a rare malformation disorder caused by mutations in the ...
Rubinstein\u2013Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by ...
Abstract Background Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder chara...
Rubinstein-Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cogni...
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant disorder characterised by facial dysmo...
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant disorder characterised by facial dysmo...
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant genetic disease and is characterized b...
Background: Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized...
Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and dis...
Rubinstein-Taybi syndrome (RSTS, OMIM #180849) is a rare autosomal dominant congenital disorder char...
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and dis...
The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous di...
The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous di...
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and dis...
Rubinstein-Taybi syndrome (RSTS) is a rare malformation disorder caused by mutations in the closely ...
AbstractRubinstein–Taybi syndrome (RSTS) is a rare malformation disorder caused by mutations in the ...
Rubinstein\u2013Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by ...
Abstract Background Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder chara...
Rubinstein-Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cogni...
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant disorder characterised by facial dysmo...
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant disorder characterised by facial dysmo...
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant genetic disease and is characterized b...
Background: Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized...
Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and dis...
Rubinstein-Taybi syndrome (RSTS, OMIM #180849) is a rare autosomal dominant congenital disorder char...
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and dis...
The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous di...
The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous di...
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and dis...