Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Por um escritor misterioso
Last updated 12 abril 2025


PDF) New dysmorphic features in Rubinstein-Taybi syndrome

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect

Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients

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

Genes, Free Full-Text

PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome

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

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

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

Microdeletions and mutations of CREBBP (CBP) gene can cause

Microdeletions and mutations of CREBBP (CBP) gene can cause

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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