Rubinstein-Taybi Syndrome
Por um escritor misterioso
Descrição
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein-Taybi Syndrome
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Rubinstein-Taybi syndrome associated with breast cancer — a case report
Rubinstein-Taybi Syndrome: A case report
What Is Rubinstein-Taybi Syndrome? - StoryMD
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
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
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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