New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients
V Pérez‐Grijalba, A García‐Oguiza… - … Genetics & Genomic …, 2019 - Wiley Online Library
Abstract Background Rubinstein‐Taybi syndrome (RSTS) is a rare congenital disorder
characterized by broad thumbs and halluces, intellectual disability, distinctive facial features …
characterized by broad thumbs and halluces, intellectual disability, distinctive facial features …
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing
Y Enomoto, T Yokoi, Y Tsurusaki, H Murakami… - Clinical …, 2022 - Wiley Online Library
Rubinstein‐Taybi syndrome (RSTS) is characterized by dysmorphic facial features, broad
thumbs, and intellectual disability. CREB‐binding protein (CREBBP) or E1A‐binding protein …
thumbs, and intellectual disability. CREB‐binding protein (CREBBP) or E1A‐binding protein …
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report
K Kamenarova, E Simeonov, R Tzveova, D Dacheva… - Human Pathology, 2016 - Elsevier
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant congenital disorder
(prevalence, 1: 125 000-720 000) characterized by broad thumbs and halluces, facial …
(prevalence, 1: 125 000-720 000) characterized by broad thumbs and halluces, facial …
[HTML][HTML] First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
M López, V Seidel, P Santibáñez… - BMC Medical …, 2016 - Springer
Abstract Background Rubinstein-Taybi syndrome (RSTS; OMIM# 180849,# 613684) is a
rare autosomal dominant genetic condition characterized by broad thumbs and halluces …
rare autosomal dominant genetic condition characterized by broad thumbs and halluces …
[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 …
neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused …
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS
O Bartsch, S Schmidt, M Richter, S Morlot… - Human genetics, 2005 - Springer
Rubinstein–Taybi syndrome (RSTS) is a distinct dominant disorder characterized by short
stature, typical face, broad angulated thumbs and halluces, and mental retardation. The …
stature, typical face, broad angulated thumbs and halluces, and mental retardation. The …
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 …
characterized by cognitive impairment and several multiple congenital anomalies. The …
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
Abstract Background Rubinstein–Taybi syndrome (RSTS) is a rare congenital malformation
syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large …
syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large …
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 …
face and distal limbs abnormalities, intellectual disability, and a vast number of other …
[HTML][HTML] Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi syndrome patients
M Stef, D Simon, B Mardirossian, MA Delrue… - European Journal of …, 2007 - nature.com
Abstract The Rubinstein–Taybi syndrome (RTS) is a rare autosomal-dominant disease
associated with 10–15% of cases with 16p13. 3 microdeletions involving the CREB-binding …
associated with 10–15% of cases with 16p13. 3 microdeletions involving the CREB-binding …
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