Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
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Last updated 25 abril 2025


Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC

RSTS Encyclopedia MDPI

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

PDF) Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: An update of the CREBBP deletion repertoire

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

CBP deficiency leads to HMT-mediated epigenetic modification. Induction

Microdeletions and mutations of CREBBP (CBP) gene can cause

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library

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

Rubinstein-Taybi syndrome: MedlinePlus Genetics

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