Casarubinstein taybi syndrome

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP

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Last updated 29 março 2025
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
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
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
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
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Genes, Free Full-Text
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Rubinstein–Taybi syndrome - Wikipedia
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
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