Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
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Last updated 15 julho 2024
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PDF) Rubinstein-Taybi syndrome medical guidelines
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://i1.rgstatic.net/publication/352725992_Rubinstein-Taybi_Syndrome_A_Model_of_Epigenetic_Disorder/links/60d551a5299bf1ea9ebacbc6/largepreview.png)
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
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Genes, Free Full-Text
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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
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PDF) Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome
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A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
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Genes, Free Full-Text
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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
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CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://media.springernature.com/m685/springer-static/image/art%3A10.1007%2Fs12031-020-01681-x/MediaObjects/12031_2020_1681_Fig1_HTML.jpg)
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
![Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library](https://www.frontiersin.org/files/Articles/1059658/fped-11-1059658-HTML/image_m/fped-11-1059658-g002.jpg)
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
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PDF) Rubinstein-Taybi syndrome medical guidelines
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