Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

Forgotten Diseases Research Foundation

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Clinical and molecular findings of the six patients with Rubinstein

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

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

Frontiers BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome

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

Rubinstein‐Taybi syndrome in Chinese population with four novel