RTS National Conference 2023 – UCCEDD

Severe persistent pulmonary hypertension in a neonate with

Internet Scientific Publications

Frontiers Case report: A preterm infant with rubinstein-taybi

Rubinstein-Taybi syndrome: Dental manifestations and management

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

A novel CREBBP mutation and its phenotype in a case of Rubinstein

Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes in Diverse Populations