CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library

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Last updated 18 janeiro 2025
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort  of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 -  Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

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