Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Por um escritor misterioso
Last updated 08 março 2025


Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Genes, Free Full-Text

PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

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

PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report

Genes, Free Full-Text

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

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