Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

The missing link between genetic association and regulatory function

Perspectives on the future of dysmorphology - Solomon - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library

Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - 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

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing - ScienceDirect

IJMS, Free Full-Text

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

IJMS, Free Full-Text

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

PDF) Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Adults with Rubinstein–Taybi syndrome - Stevens - 2011 - American Journal of Medical Genetics Part A - Wiley Online Library

Genes, Free Full-Text

Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract - Connaughton - 2022 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library