Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
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KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies, Clinical Epigenetics
A) Location of the exon CREBBP mutations found in this study. Only
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Sequencing gels showing CREBBP mutations in genomic DNA, forward and
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation
PDF) Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
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