Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
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Last updated 21 janeiro 2025
PDF) Rubinstein-Taybi syndrome medical guidelines
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Genes, Free Full-Text
Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP - Banka - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
Genes, Free Full-Text
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
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
PDF) Rubinstein-Taybi syndrome medical guidelines
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