Rubinstein-Taybi Syndrome: A case report
Por um escritor misterioso
Descrição
Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome: Multisystem involvement and its clinical
Rubinstein-Taybi Syndrome: A Rare Case Report
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
What to Expect Rubinstein-Taybi Syndrome
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein-Taybi Syndrome
PDF) Rubinstein-Taybi Syndrome: A Case Report
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
Infantile glaucoma in Rubinstein–Taybi syndrome
PDF] Rubinstein-Taybi Syndrome: A Case Report
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