Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP

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Last updated 08 novembro 2024
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Photographs of patient face, hands, and feet described with CREBBP
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
CBP and p300 transcript levels in Rubinstein e Taybi syndrome (RSTS)
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 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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
PDF) Rubinstein-Taybi syndrome medical guidelines
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
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening

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