Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Por um escritor misterioso
Last updated 30 março 2025


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

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH

PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

CBP deficiency leads to HMT-mediated epigenetic modification. Induction

Clinical features of our patient at the age of three years. Dysmorphic

Genes, Free Full-Text

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome, Orphanet Journal of Rare Diseases

PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
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