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 …
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 …
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 …
Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum
MJ Hamilton, R Newbury-Ecob… - Clinical …, 2016 - journals.lww.com
Rubinstein–Taybi syndrome (RTS) is an autosomal dominant neurodevelopmental disorder
characterized by growth deficiency, broad thumbs and great toes, intellectual disability and …
characterized by growth deficiency, broad thumbs and great toes, intellectual disability and …
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 …
characterized by growth deficiency, skeletal abnormalities, dysmorphic features, and …
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 …
characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features …
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome
O Bartsch, J Labonté, B Albrecht… - American Journal of …, 2010 - Wiley Online Library
Rubinstein–Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and
great toes and a recognizable craniofacial phenotype. Causative mutations have been …
great toes and a recognizable craniofacial phenotype. Causative mutations have been …
Exome sequencing identification of EP300 mutation in a proband with coloboma and imperforate anus: Possible expansion of the phenotypic spectrum of Rubinstein …
K Masuda, K Akiyama, M Arakawa, E Nishi… - Molecular …, 2015 - karger.com
Rubinstein-Taybi syndrome (RSTS) is a multisystem developmental disorder characterized
by facial dysmorphisms, broad thumbs and halluces, growth retardation, and intellectual …
by facial dysmorphisms, broad thumbs and halluces, growth retardation, and 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 …
face and distal limbs abnormalities, intellectual disability, and a vast number of other …
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 …
function variants in CREBBP or EP300. Affected individuals present with distinctive …
相关搜索
- ep300 mutations taybi syndrome
- rubinstein taybi ep300 gene
- ep300 mutations patients with rubinstein
- phenotypic spectrum ep300 mutation
- rubinstein taybi phenotypic spectrum
- patients with rubinstein taybi syndrome
- ep300 mutations facial dysmorphism
- point mutations gene deletion
- rubinstein taybi ep300 mutation
- rubinstein taybi ep300 variant
- ep300 mutations phenotype and genotype
- rubinstein taybi phenotype correlations
- mutational spectrum gene deletion
- point mutations mutational spectrum