Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Por um escritor misterioso
Last updated 08 novembro 2024
Photographs of patient face, hands, and feet described with CREBBP
CBP and p300 transcript levels in Rubinstein e Taybi syndrome (RSTS)
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
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300
PDF) Rubinstein-Taybi syndrome medical guidelines
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
Rubinstein-Taybi Syndrome
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
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