Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome

Congenital glaucoma as a presenting feature of Rubinstein-Taybi

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PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author

Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of

PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP

Rubinstein‐Taybi syndrome in Chinese population with four novel