Rubinstein-Taybi syndrome - wikidoc

Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

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

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

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

Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

Genes involved in histone acetylation known to cause rare diseases

Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library

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