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rubinstein taybi omim
Frontiers BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Rubinstein–Taybi syndrome - Wikipedia
Rubinstein-Taybi syndrome - wikidoc
Genes involved in histone acetylation known to cause rare diseases
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect
Genes, Free Full-Text
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
Rubinstein-Taybi Syndrome
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
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
High frequency of copy number imbalances in Rubinstein–Taybi
Growth charts for individuals with Rubinstein–Taybi syndrome - Beets - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library
Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Exon deletions of the EP300 and CREBBP genes in two children with
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Microdeletions and mutations of CREBBP (CBP) gene can cause
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